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<span>Bart-Pumphrey syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome/</span>
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<article>
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<h1>Bart-Pumphrey syndrome</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.</p><p>People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood.</p><p>The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital).</p><p>The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families and individual cases have been identified.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Bart-Pumphrey syndrome is caused by mutations in the <i><a data-pid="17209" href="https://medlineplus.gov/genetics/gene/gjb2/">GJB2</a></i> gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.</p><p>Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the <a class="image-modal" data-alt="Basic anatomy of the ear, from the outer ear to the inner ear" data-caption="" data-credit="Blamb/Shutterstock.com" data-filepath="images/PX000170_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000170" data-sourceurl="" data-title="Anatomy of a normal ear" href="https://medlineplus.gov/images/PX000170_PRESENTATION.jpeg" id="PX000170_2" title="Show image">cochlea<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the <a class="image-modal" data-alt="Line drawing showing cross-section of dermal and epidermal skin layers." data-caption="" data-credit="National Cancer Institute" data-filepath="images/PX00002K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00002K" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=1785" data-title="Skin cross-section: epidermis and dermis" href="https://medlineplus.gov/images/PX00002K_PRESENTATION.jpeg" id="PX00002K_3" title="Show image">epidermis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>).</p><p>The <i>GJB2</i> gene mutations that cause Bart-Pumphrey syndrome change single protein building blocks (amino acids) in the connexin 26 protein. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Bart-Pumphrey syndrome</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/gjb2/">GJB2</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_1" title="Show image">one parent<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> with the condition. Other cases result from <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_2" title="Show image">new mutations in the gene<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and occur in people with no history of the disorder in their family.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Knuckle pads, deafness, and leukonychia syndrome</li> <li>Knuckle pads, leukonychia, and sensorineural deafness</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0266004/" target="TheNewWin">Genetic Testing Registry: Knuckle pads, deafness AND leukonychia syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/3125/index" target="TheNewWin">Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/149200" target="TheNewWin">BART-PUMPHREY SYNDROME; BAPS</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28bart-pumphrey+syndrome%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE. G59S mutation in
the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med
Genet A. 2005 Jul 30;136(3):282-4. doi: 10.1002/ajmg.a.30822. No abstract
available. <a href="https://pubmed.ncbi.nlm.nih.gov/15952212" target="TheNewWin">Citation on PubMed</a></li>
<li>Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert
Rev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. <a href="https://pubmed.ncbi.nlm.nih.gov/19939300" target="TheNewWin">Citation on PubMed</a></li>
<li>Ramer JC, Vasily DB, Ladda RL. Familial leuconychia, knuckle pads, hearing
loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey
syndrome. J Med Genet. 1994 Jan;31(1):68-71. doi: 10.1136/jmg.31.1.68. <a href="https://pubmed.ncbi.nlm.nih.gov/8151643" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049604/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic
spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense
mutation in GJB2. J Invest Dermatol. 2004 Nov;123(5):856-63. doi:
10.1111/j.0022-202X.2004.23470.x. <a href="https://pubmed.ncbi.nlm.nih.gov/15482471" target="TheNewWin">Citation on PubMed</a></li>
<li>Xu J, Nicholson BJ. The role of connexins in ear and skin physiology -
functional insights from disease-associated mutations. Biochim Biophys Acta. 2013
Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. <a href="https://pubmed.ncbi.nlm.nih.gov/22796187" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521577/" target="TheNewWin">Free article on PubMed Central</a></li>
</ul>
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