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<meta name="description" content="Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalies. To elucidate the range of ocular phenotypes caused by mutations in TFAP2A, we took th …"><meta name="keywords" content="pmid:19685247, PMC3083835, doi:10.1007/s00439-009-0730-x, Research Support, Non-U.S. Gov&#x27;t, Gaia Gestri, Robert J Osborne, Nicola K Ragge, Adult, Animals, Branchio-Oto-Renal Syndrome / genetics, Child, Preschool, Eye / embryology*, Eye Abnormalities / genetics*, Female, Gene Deletion, Humans, Infant, Male, Middle Aged, Morphogenesis / genetics, Mutation, Retina / abnormalities*, Transcription Factor AP-2 / genetics*, Zebrafish, Zebrafish Proteins / genetics, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/19685247/"><meta property="og:description" content="Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalies. To elucidate the range of ocular phenotypes caused by mutations in TFAP2A, we took th …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/19685247/"><meta name="twitter:description" content="Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalies. To elucidate the range of ocular phenotypes caused by mutations in TFAP2A, we took th …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
</div>
<div class="action-panel-control-wrap">
<label for="email-citation-format" class="action-panel-label">
Format:
</label>
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
<option selected="selected" value="summary">Summary</option>
<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
</div>
</div>
<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="KvCNgvONlmoFmcTJJHMbwyqO4D9f6Ob51imSTlh9VXb9gDZzm0pd0GWsCHRrZpJp">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="KvCNgvONlmoFmcTJJHMbwyqO4D9f6Ob51imSTlh9VXb9gDZzm0pd0GWsCHRrZpJp">
<div class="action-panel-control-wrap bibliographies-controls">
<div class="choice-group">
<ul class="bibliographies-action-add radio-group-items">
<li>
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
<label for="my-bibliography">My Bibliography</label>
</li>
</ul>
</div>
</div>
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your delegates due to an error<br>
<a href="#">Please try again</a>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore>
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to bibliography' panel"
ref="linksrc=close_bibliography_panel"
aria-controls="bibliography-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="mybib"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
data-saved-search-open-panel-enabled="false"
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your saved search
</h2>
<form id="saved-search-action-panel-form"
class="saved-search-action-panel-form action-panel-content action-form"
data-create-saved-search-url="/create-saved-search/"
data-try-search-terms-url="/try-search-term/"
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
<input type="hidden" name="csrfmiddlewaretoken" value="KvCNgvONlmoFmcTJJHMbwyqO4D9f6Ob51imSTlh9VXb9gDZzm0pd0GWsCHRrZpJp">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="KvCNgvONlmoFmcTJJHMbwyqO4D9f6Ob51imSTlh9VXb9gDZzm0pd0GWsCHRrZpJp">
<input name="results-format" type="hidden" value="pubmed"/>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Send citations to citation manager' panel"
ref="linksrc=close_citation_manager_panel"
aria-controls="citation-manager-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your RSS Feed
</h2>
<form id="rss-action-panel-form"
class="rss-action-panel-form action-panel-content action-form"
data-create-rss-feed-url="/create-rss-feed-url/"
data-search-form-term-value="">
<input type="hidden" name="csrfmiddlewaretoken" value="KvCNgvONlmoFmcTJJHMbwyqO4D9f6Ob51imSTlh9VXb9gDZzm0pd0GWsCHRrZpJp">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="19685247">
<aside class="page-sidebar">
<div class="inner-wrap">
<div class="full-text-links">
<div class="full-view">
<h3 class="title">
Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://dx.doi.org/10.1007/s00439-009-0730-x"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3055&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=19685247&amp;db=pubmed&amp;nlmid=7613873"
title="See full text options at Springer"
data-ga-category="full_text"
data-ga-action="Springer"
data-ga-label="19685247"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" alt="Springer full text link"><span class="text">
Springer
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/19685247/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=19685247&amp;db=pubmed&amp;nlmid=7613873"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="19685247"
><span class="text">
Free PMC article
</span></a>
</div>
</div>
<div class="short-view">
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/19685247/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/19685247/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="19685247" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
aria-label="Save article in MyNCBI collections."
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F19685247%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="KvCNgvONlmoFmcTJJHMbwyqO4D9f6Ob51imSTlh9VXb9gDZzm0pd0GWsCHRrZpJp"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label><input
type="text"
name="add-to-new-collection"
id="collections-action-dialog-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="collections_button"
data-ga-action="create_collection"
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Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalies. To elucidate the range of ocular phenotypes caused by mutations in TFAP2A, we took three approaches. First, we screened a cohort of 37 highly selected individuals with severe ocular anomalies plus variable defects associated with BOFS for mutations or deletions in TFAP2A. We identified one individual with a de novo TFAP2A four amino acid deletion, a second individual with two non-synonymous variations in an alternative splice isoform TFAP2A2, and a sibling-pair with a paternally inherited whole gene deletion with variable phenotypic expression. Second, we determined that TFAP2A is expressed in the lens, neural retina, nasal process, and epithelial lining of the oral cavity and palatal shelves of human and mouse embryos--sites consistent with the phenotype observed in patients with BOFS. Third, we used zebrafish to examine how partial abrogation of the fish ortholog of TFAP2A affects the penetrance and expressivity of ocular phenotypes due to mutations in genes encoding bmp4 or tcf7l1a. In both cases, we observed synthetic, enhanced ocular phenotypes including coloboma and anophthalmia when tfap2a is knocked down in embryos with bmp4 or tcf7l1a mutations. These results reveal that mutations in TFAP2A are associated with a wide range of eye phenotypes and that hypomorphic tfap2a mutations can increase the risk of developmental defects arising from mutations at other loci.
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<div class="figure-caption-contents"><p> Results of molecular analysis of… </p></div>
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<div class="figure-caption-contents"><p> Results of molecular analysis of <i> TFAP2A </i> showing gene and protein structure, MLPA and… </p></div>
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<div class="figure-caption-contents">Results of molecular analysis of <i>TFAP2A</i> showing gene and protein structure, MLPA and custom array CGH. <b>a</b> Schematic representation of <i>TFAP2A</i> mRNA showing exon breakdown and number of bases encoded by each exon; splice indicators above depict <i>TFAP2A</i> full-length mRNA (NM003220.2 isoform 1a), while those below describe exon 5 alternatively spliced in the <i>TFAP2A2</i> isoform (M61156); TFAP2A protein representation showing full-length protein (<i>upper</i>) and M61156 isoform (<i>lower</i>) showing domains. <i>PG</i> proline/glutamine rich domain (for transactivation), <i>B</i> basic domain of DNA binding region, <i>HSH</i> helix-span-helix domain (mediates dimerization and site specific DNA binding). <i>Small arrows</i> show previously reported mutations, <i>large arrows</i> show our cases. <b>b</b> Chromatograms from Cases 1 and 2 and normal controls showing position of variations (<i>arrows</i>). Comparative amino acid sequence alignment of vertebrate TFAP2A and genomic sequence alignment of TFAP2A2 encompassing the regions altered in Cases 1 and 2. <b>c</b> MPLA traces for Cases 3, 4, and 5 showing a 50% reduction in peak height for exons 2, 4, 5, 6 and 7 of <i>TFAP2A</i> compared to maternal and control peaks (no probes were available for exons 1 and 3). <b>d</b> High resolution comparative genomic hybridization (CGH) microarray analysis of the <i>TFAP2A</i> region. The data show an approximate 70 kb deletion in (i) Case 3, (ii) Case 4, and (iii) Case 5 (father), but not in (iv) mother. The position of the <i>TFAP2A</i> gene is shown in <i>green</i> and C6orf218 in <i>blue</i>. Oligonucleotides are colour coded in order of increasing reliability according to their Agilent probe score (where &lt;0.4 is poor and&gt;0.4 is good,&gt;0.8 is very good): 00.2 <i>red</i>, 0.20.4 <i>yellow</i>, 0.40.6 <i>green</i>, 0.60.8 <i>blue</i>, 0.81.0 <i>black</i>. Chromosome co-ordinates are according to NCBI36</div>
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<div class="figure-caption-contents"><p> Photographs of external features of Cases 1, 3, 4, and 5. Case 1… </p></div>
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<div class="figure-caption-contents">Photographs of external features of Cases 1, 3, 4, and 5. Case 1 showing <b>a</b> full face with frontal bossing, R anophthalmia (wearing prosthesis), prominent philtrum; <b>b</b> left iris coloboma <b>c</b> right periorbital subcutaneous lump (presumed dermoid); <b>d</b> right and left external ears showing malformed pinnae; and <b>e</b> close-up of oral cavity demonstrating abnormal dentition (three inferior incisors) and prominent philtrum (<b>f</b>) view of chest showing widely spaced nipples. Case 3: <b>g</b> Full face in early life showing bilateral orbital cysts; <b>h</b> full face showing patient wearing bilateral prosthetic eyes and prominent philtrum; <b>i</b> close-up of microphthalmic remnants; <b>j</b> close-up of oral cavity demonstrating abnormal dentition; <b>k</b> right and left cervical skin defects; <b>l</b> pits in posterior pinna. Case 4: <b>m</b> Full face showing bilateral microphthalmia with R esotropia and hypertropia and inferior orbital cyst; <b>n</b> close of right and left microphthalmic eyes; <b>o</b> feet showing bilateral 2/3 partial syndactyly; <b>p</b> showing ears with mild malformed pinnae; <b>q</b> mild webbing of fingers. Case 5 showing <b>r</b> full face with prominent philtrum; <b>s</b> bilateral 2/3 partial syndactyly feet; <b>t</b> bilateral malformed pinnae</div>
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<div class="figure-caption-contents"><p> In situ hybridization of <i> TFAP2A… </i> </p></div>
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<div class="figure-caption-contents"><p> In situ hybridization of <i> TFAP2A </i> in mouse and human developing embryos showing expression… </p></div>
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<div class="figure-caption-contents">In situ hybridization of <i>TFAP2A</i> in mouse and human developing embryos showing expression of <i>TFAP2A</i>. <b>a</b> Sagittal section of 12.5 dpc mouse showing expression of <i>Tfap2a</i> in the nasal process, palate, cerebellum, thalamus, and spinal cord. <b>b</b> Coronal section of CS 15 human eye showing expression of <i>TFAP2A</i> in the anterior lens epithelium. <b>c</b> Coronal section of CS 18 human eye showing expression of <i>TFAP2A</i> in the anterior lens epithelium, and ganglion cell layer of the neural retina. <b>d</b> Coronal section of CS 22 human eye showing expression of <i>TFAP2A</i> in the equatorial region of the lens epithelium, throughout the secondary lens fibres and ganglion cell layer of the neural retina. <i>np</i> nasal process, <i>ce</i> cerebellum, <i>pa</i> palate, <i>th</i> thalamus, <i>sc</i> spinal cord, <i>nr</i> neural retina, <i>le</i> lens</div>
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<div class="figure-caption-contents"><p> Zebrafish studies demonstrating eye and… </p></div>
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<div class="figure-caption-contents"><p> Zebrafish studies demonstrating eye and craniofacial defects in tfap2a morpholino-injected larvae and enhanced… </p></div>
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<div class="figure-caption-contents">Zebrafish studies demonstrating eye and craniofacial defects in tfap2a morpholino-injected larvae and enhanced phenotypes in Wnt and Bmp morphants. <b>a</b> Abrogation of tfap2a function leads to eye and craniofacial defects. (<i>i</i>, <i>ii</i>) Wild-type and <i>tfap2a</i> morpholino-injected larvae at 3.5 dpf; <i>arrow</i> in (<i>ii</i>) points to the expansion of the retinal pigmented epithelium (RPE) towards the midline (<i>black line</i>) due to ventral eye coloboma. (<i>iii</i>, <i>iv</i>) Pharyngeal cartilages from 3.5 dpf wild-type (<i>iii</i>) and <i>tfap2a</i> morpholino-injected larvae (<i>iv</i>), stained with Alcian Blue and shown in ventral view. Palatoquadrate (roof of mouth) and ceratohyal (part of the hyoid bone) (<i>iv</i>, <i>arrows</i>) are severely disorganised in the morphant. Higher magnification of 3.5 dpf embryos showing wild-type (<i>v</i>) and morphant eyes with ectopic RPE (<i>vi</i>) and coloboma (<i>arrow</i> in <i>vii</i>). (<i>viii</i>) Table showing the percentage of the abnormal phenotypes in the <i>tfap2a</i> morpholinoinjected larvae (ectopic RPE, coloboma, small eye, jaw defects). <i>m</i> Meckel, <i>pq</i> palatoquadrate, <i>ch</i> ceratohyal. <b>b</b> Synthetic and enhanced coloboma and anophthalmia phenotypes are revealed by combined abrogation of <i>tfap2a</i> and <i>tcf7l1a</i>. Lateral view of 3.5 dpf larva injected with a low concentration of <i>tfap2a</i> morpholino that does not give rise to any phenotypes in a wild-type background (<i>i</i>), gives rise to a coloboma phenotype in <i>tcf7l1a</i><sup><i>m881</i>/+</sup> heterozygotes (<i>ii</i>) and anophthalmia in the <i>tcf7l1a<sup>m881/m881</sup></i> homozygote (<i>iii</i>). PCR-based confirmation of predicted genotypes based upon phenotypes (<i>iv</i>). PCR products were amplified from individual 3.5 dpf larvae with a wild-type phenotype as in (<i>i</i>) (<i>lanes 14</i> 16/16 embryos are homozygous for the wild-type allele), a mild phenotype as in (<i>ii</i>) (<i>lane 512</i>; 32/36 embryos are heterozygous for the mutant allele as shown in <i>lane 5</i>, <i>7</i>, <i>912</i> and 4/36 are homozygous for the mutant allele as in <i>lanes 6</i> and <i>8</i>) and an anophthalmia phenotype as in (<i>iii</i>) (<i>lane 1316</i>; 16/16 embryos are homozygous for the mutant allele). <b>c</b> Synthetic and enhanced eye phenotypes are revealed by combined abrogation of <i>tfap2a</i> and <i>bmp4.</i> Lateral views of 3.5 dpf larvae injected with a low concentration of <i>tfap2a</i> morpholino that does not give rise to any phenotypes in a wild-type background. In 60% of the <i>bmp4</i><sup>st72/+</sup> heterozygotes (<i>i</i>) there is no phenotype (wild-type and heterozygote embryos are indiscernible), whereas in the <i>bmp4</i><sup>st72/st72</sup> homozygotes (<i>ii</i>) there is a prominent coloboma (<i>black brackets</i>). PCR-based confirmation of predicted genotypes based upon phenotypes (<i>iii</i>). PCR products were amplified from individual 3.5 dpf larvae with a wild-type phenotype as in <i>i</i> (<i>lanes 14</i>), both wild type (<i>lanes 1</i> and <i>4</i> and heterozygote genotype are present (<i>lanes 2</i> and <i>3</i>), and a coloboma phenotype as in <i>ii</i> (<i>lane 514</i>). Most affected individuals are <i>bmp4</i><sup>st72/st72</sup> homozygotes although 2 (<i>lanes 5</i> and <i>7</i>) are <i>bmp4</i><sup>st72</sup> heterozygotes. The differences in intensity of the PCR bands can result from a difference in the efficiency of the genomic DNA extraction or PCR reaction, or, less likely, from partial DNA digestion</div>
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