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<title>Neotenic complex syndrome</title>

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<span id="openzim-page-title" class="mw-page-title-main"><span class="mw-page-title-main">Neotenic complex syndrome</span></span>

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</style><table class="infobox infobox-has-images-with-white-backgrounds"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Neotenic complex syndrome</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Syndrome X</td></tr><tr><th scope="row" class="infobox-label">Usual onset</th><td class="infobox-data">Usually detected at or after age 3, but likely present at birth</td></tr><tr><th scope="row" class="infobox-label"><a href="Cause_(medicine)" title="Cause (medicine)">Causes</a></th><td class="infobox-data">Possibly genetic (<i>de novo</i> mutations)</td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">Extremely rare: fewer than 100 confirmed cases worldwide</td></tr></tbody></table><style data-mw-deduplicate="TemplateStyles:r1236303919">

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<p><b>Neotenic complex syndrome</b> (<b>NCS</b>) is a <a href="Syndrome" title="Syndrome">syndrome</a> that presents as an extreme form of <a href="Developmental_disability" title="Developmental disability">developmental delay</a>, with the defining characteristic being <a href="Neoteny" title="Neoteny">neoteny</a> of the patient. It was named in 2017 by Dr. Richard F. Walker, who discovered several genes implicated in the syndrome.<sup id="cite_ref-GIM_1-0" class="reference"><a href="#cite_note-GIM-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>

</p><p>Prior to 2015, when <a href="Whole_genome_sequencing" title="Whole genome sequencing">whole genome sequencing</a> was used to identify some genes involved in NCS, the condition was labelled "Syndrome X" when it was first discovered in <a href="Brooke_Greenberg" title="Brooke Greenberg">Brooke Greenberg</a>. Thereafter, others with the developmental symptoms were sought out in order to find common genetic aberrations that could provide clues as to cause. To date, seven human females have been diagnosed with NCS. In five patients, <a href="Coding_region" title="Coding region">coding</a> <a href="De_novo_mutation" title="De novo mutation"><i>de novo</i> mutations</a> were found in five different <a href="Gene" title="Gene">genes</a> which fall into similar functional categories of <a href="Transcription_regulation" class="mw-redirect" title="Transcription regulation">transcription regulation</a> and <a href="Chromatin" title="Chromatin">chromatin</a> modification.<sup id="cite_ref-Aging_2-0" class="reference"><a href="#cite_note-Aging-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-GIM_1-1" class="reference"><a href="#cite_note-GIM-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>

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<div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2></div>

<p>In most of the patients analyzed, researchers identified <a href="Missense_mutation" title="Missense mutation">missense</a> <i>de novo</i> mutations in a set of genes. Mutations in three of these genes (<i><a href="DDX3X" title="DDX3X">DDX3X</a></i>, <i><a href="TLK2" title="TLK2">TLK2</a></i> and <i><a href="HDAC8" title="HDAC8">HDAC8</a></i>) were shared with those found in databases of individuals with developmental delay or <a href="Autism_spectrum_disorder" class="mw-redirect" title="Autism spectrum disorder">autism spectrum disorder</a>. A mutation in one gene (<i>TMEM63B</i>) was identified in a large <a href="Knockout_mouse" title="Knockout mouse">knockout mouse</a> study as likely to result in disease in humans. In two patients, a small (~150 kb) <a href="Non-coding_DNA" title="Non-coding DNA">non-coding</a> region of <a href="Chromosome_X" class="mw-redirect" title="Chromosome X">chromosome X</a> was discovered to have a rare haplotype. This region appears to have regulatory functions (<a href="Histone_acetylation" class="mw-redirect" title="Histone acetylation">histone acetylation</a> and <a href="DNase_I_hypersensitive_site" title="DNase I hypersensitive site">DNase I hypersensitivity</a>) and is in close proximity to several genes (<i>AP1S2</i>, <i>MRX59</i>, <i>MRXSF</i>, <i>MRXS21</i>, <i>MRXS5</i> and <i>PGS</i>) involved in mental retardation. The fact that NCS has so far only been found in females may be by chance or may be due to the <a href="X_linkage" class="mw-redirect" title="X linkage">X linkage</a> of some of the genes and regions potentially responsible for NCS, in which the lack of a healthy copy on a second X chromosome could render the disease lethal in males.<sup id="cite_ref-GIM_1-2" class="reference"><a href="#cite_note-GIM-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>

</p><p>Whether or not these mutations contribute to NCS is unclear. Not enough research has been conducted, complicated by the rarity of the syndrome. Many genetic differences were noted to be insignificant, and the effects of mutations in some genes are currently beyond scientific understanding.<sup id="cite_ref-GIM_1-3" class="reference"><a href="#cite_note-GIM-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>

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<div class="mw-heading mw-heading2"><h2 id="History">History</h2></div>

<p>An 1888 article in the newspaper <i>The Diamond Drill</i> of <a href="Crystal_Falls%2C_Michigan" title="Crystal Falls, Michigan">Crystal Falls</a>, <a href="Michigan" title="Michigan">Michigan</a>, describes a 17-year-old girl from <a href="Stockerau" title="Stockerau">Stockerau</a>, <a href="Vienna" title="Vienna">Vienna</a>, named Maria Schumann. Due to her condition (identified at the time as "<a href="Microcephaly" title="Microcephaly">microcephaly</a>"), she had never outgrown the mental state or size of an infant, but was of "sound composition". She could not speak or masticate, consumed only liquids and pulpy foods despite having all of her teeth, and often slept for 2 days and 2 nights at a time.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup>

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<div class="mw-heading mw-heading2"><h2 id="Prominent_cases">Prominent cases</h2></div>

<ul><li><a href="Brooke_Greenberg" title="Brooke Greenberg">Brooke Greenberg</a></li></ul>

<div class="mw-heading mw-heading2"><h2 id="References">References</h2></div>

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</style><cite id="CITEREFWalkerCiotlosMaoChin2017" class="citation journal cs1">Walker, Richard F.; Ciotlos, Serban; Mao, Qing; Chin, Robert; Drmanac, Snezana; Barua, Nina; Agarwal, Misha R.; Rebecca, Yu Zhang; Zhenyu, Li; Ka Yan Wu, Michelle; Sun, Kevin; Lee, Katharine; Nguyen, Staci; Liu, Jia Sophie; Carnevali, Paolo; Drmanac, Radoje; Peters, Brock A. (September 21, 2017). <a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fgim.2017.140">"Clinical and genetic analysis of a rare syndrome associated with neoteny"</a>. <i>Genetics in Medicine</i>. <b>20</b> (5): <span class="nowrap">495–</span>502. <a href="Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fgim.2017.140">10.1038/gim.2017.140</a></span>. <a href="PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/29758565">29758565</a>.</cite></span>

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<li id="cite_note-Aging-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-Aging_2-0">^</a></b></span> <span class="reference-text"><cite id="CITEREFWalkerLiuPetersRitz2015" class="citation journal cs1">Walker, Richard F.; Liu, Jia Sophie; Peters, Brock A.; Ritz, Beate R.; Wu, Timothy; Ophoff, Roel A.; Horvath, Steve (May 15, 2015). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468314">"Epigenetic age analysis of children who seem to evade aging"</a>. <i>Aging (Albany NY)</i>. <b>7</b> (5): <span class="nowrap">334–</span>339. <a href="Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.18632%2Faging.100744">10.18632/aging.100744</a>. <a href="PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468314">4468314</a></span>. <a href="PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/25991677">25991677</a>.</cite></span>

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<li id="cite_note-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-3">^</a></b></span> <span class="reference-text"><cite id="CITEREFHumanities1888" class="citation news cs1">Humanities, National Endowment for the (1888-05-26). <a rel="nofollow" class="external text" href="https://chroniclingamerica.loc.gov/lccn/sn96076817/1888-05-26/ed-1/seq-6/">"The diamond drill. (Crystal Falls, Iron County, Mich.) 1887-1996, May 26, 1888, Image 6"</a>. <i>The Diamond Drill</i>. <a href="ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/2475-0131">2475-0131</a>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20220310205555/https://chroniclingamerica.loc.gov/lccn/sn96076817/1888-05-26/ed-1/seq-6/">Archived</a> from the original on 2022-03-10<span class="reference-accessdate">. Retrieved <span class="nowrap">2022-03-10</span></span>.</cite></span>

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