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<span>5q31.3 microdeletion syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/5q313-microdeletion-syndrome/</span>
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<h1>5q31.3 microdeletion syndrome</h1>
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<h2>Description</h2>
<section><div class="mp-content"><p>5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.</p><p>5q31.3 microdeletion syndrome is also characterized by distinctive facial features. Such features include a <a class="image-modal" data-alt="Front view photo of a child with a narrow forehead" data-caption="Note the decreased distance between the two sides of the forehead with narrowing at the temples." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001IP_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001IP" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=03f02219fe5521b4" data-title="Narrow forehead" href="https://medlineplus.gov/images/PX0001IP_PRESENTATION.jpeg" id="PX0001IP_1" title="Show image">narrow forehead<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, widely spaced eyes (<a class="image-modal" data-alt="Photograph of the face of a child with widely spaced eyes." data-caption="A boy with widely spaced eyes." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001SG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001SG" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=71d9f1be67c7f8b6" data-title="Widely spaced eyes (hypertelorism)" href="https://medlineplus.gov/images/PX0001SG_PRESENTATION.jpeg" id="PX0001SG_2" title="Show image">hypertelorism<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), an open mouth with an upper lip that points outward (called a tented lip), a high arch in the roof of the mouth (<a class="image-modal" data-alt="Photograph of a person's open mouth showing a high arched palate." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00026J_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00026J" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=51755789482fe3a8" data-title="High arched palate" href="https://medlineplus.gov/images/PX00026J_PRESENTATION.jpeg" id="PX00026J_3" title="Show image">high-arched palate<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), a small lower jaw (micrognathia), and a lack of facial expression. Some of these features, such as an open mouth with a tented lip and an expressionless face, are thought to be due to hypotonia.</p><p>Recurrent seizures (epilepsy) and seizure-like episodes (which can include muscle jerking, twitching, and stiffening), are common in 5q31.3 microdeletion syndrome. Many individuals with 5q31.3 microdeletion syndrome have brain abnormalities, several of which are caused by reduced production of myelin or delayed maturation of myelin. <a class="image-modal" data-alt="Illustration of a nerve cell with a nucleus and cell body surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by multiple myelin sheaths with uncovered regions between myelin sheaths known as nodes of Ranvier. At the end of the axon are axon terminals and nerve synapse. The direction of the nerve impulse goes from the dendrites down the axon and through the synapse." data-caption="Illustration of a nerve cell with a nucleus and cell body surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by multiple myelin sheaths with uncovered regions between myelin sheaths known as nodes of Ranvier. At the end of the axon are axon terminals and nerve synapse. The direction of the nerve impulse goes from the dendrites down the axon and through the synapse." data-credit="Eunice Kennedy Shriver National Institute of Child Health and Human Development" data-filepath="images/PX0003IN_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0003IN" data-sourceurl="https://www.nichd.nih.gov/health/topics/neuro/conditioninfo/parts" data-title="Nerve cell (neuron)" href="https://medlineplus.gov/images/PX0003IN_PRESENTATION.jpeg" id="PX0003IN_4" title="Show image">Myelin<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> is the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>5q31.3 microdeletion syndrome is a very rare disorder. At least eight individuals with the condition have been described in the medical literature.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>5q31.3 microdeletion syndrome is caused by a chromosomal change in which a small piece of <a data-pid="20039" href="https://medlineplus.gov/genetics/chromosome/5/">chromosome 5</a> is deleted in each cell. The <a class="image-modal" data-alt="Genetic material is deleted from a chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00006K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00006K" data-sourceurl="" data-title="Chromosomal deletion" href="https://medlineplus.gov/images/PX00006K_PRESENTATION.jpeg" id="PX00006K_2" title="Show image">deletion<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> occurs on the long (q) arm of the chromosome at a position designated q31.3. The size of the deletion can range from several thousand to several million DNA building blocks (base pairs). The deleted region typically contains at least three genes. The loss of one of these genes, <em><a data-pid="19869" href="https://medlineplus.gov/genetics/gene/pura/">PURA</a></em>, is thought to lead to most of the characteristic features of the condition.</p><p>The protein produced from the <em>PURA</em> gene, called Pur-alpha (Purα), has multiple roles in cells, including controlling the activity of genes (<a class="image-modal" data-alt="DNA is transcribed into mRNA, which is transported into the cell cytoplasm and translated into a protein." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00008S_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00008S" data-sourceurl="" data-title="Through the processes of transcription and translation, information from genes is used to make proteins.
" href="https://medlineplus.gov/images/PX00008S_PRESENTATION.jpeg" id="PX00008S_4" title="Show image">gene transcription<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) and aiding in the copying (replication) of DNA. This protein is especially important for normal brain development; it helps direct the growth and division of nerve cells (<a class="image-modal" data-alt="Illustration of a nerve cell with a nucleus and cell body surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by multiple myelin sheaths with uncovered regions between myelin sheaths known as nodes of Ranvier. At the end of the axon are axon terminals and nerve synapse. The direction of the nerve impulse goes from the dendrites down the axon and through the synapse." data-caption="Illustration of a nerve cell with a nucleus and cell body surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by multiple myelin sheaths with uncovered regions between myelin sheaths known as nodes of Ranvier. At the end of the axon are axon terminals and nerve synapse. The direction of the nerve impulse goes from the dendrites down the axon and through the synapse." data-credit="Eunice Kennedy Shriver National Institute of Child Health and Human Development" data-filepath="images/PX0003IN_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0003IN" data-sourceurl="https://www.nichd.nih.gov/health/topics/neuro/conditioninfo/parts" data-title="Nerve cell (neuron)" href="https://medlineplus.gov/images/PX0003IN_PRESENTATION.jpeg" id="PX0003IN_5" title="Show image">neurons<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) and may be involved in the formation or maturation of myelin.</p><p>A loss of one copy of the <em>PURA</em> gene is thought to alter normal brain development and impair the function of neurons, leading to developmental delay, hypotonia, seizures, and other neurological problems in people with 5q31.3 microdeletion syndrome. Some studies suggest that loss of another nearby gene increases the severity of the signs and symptoms. It is unclear how the loss of other genes in the deleted region contributes to the development of 5q31.3 microdeletion syndrome.<a data-pid="20039" href="https://medlineplus.gov/genetics/chromosome/5/"></a></p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene and chromosome associated with 5q31.3 microdeletion syndrome</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/pura/">PURA</a></li>
<li><a href="https://medlineplus.gov/genetics/chromosome/5/">chromosome 5</a></li>
</ul>
<p><strong>Additional Information from NCBI Gene:</strong></p>
<ul class="relatedmp">
<li><a href="https://www.ncbi.nlm.nih.gov/gene/9542" target="TheNewWin">NRG2</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>5q31.3 microdeletion syndrome follows an <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_1" title="Show image">autosomal dominant inheritance pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the genetic alteration in each cell is sufficient to cause the disorder.</p><p>The condition is not inherited but results from the deletion of a chromosomal segment during the formation of reproductive cells (eggs and sperm) or in early fetal development. Affected people typically have 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>Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion</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/C4015357/" target="TheNewWin">Genetic Testing Registry: PURA-related severe neonatal hypotonia-seizures-encephalopathy 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>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%285q31.3+microdeletion+syndrome%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>Bonaglia MC, Zanotta N, Giorda R, D&#x27;Angelo G, Zucca C. Long-term follow-up of
a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3
deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi:
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