{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T13:02:34Z","timestamp":1792587754135,"version":"4.5.0"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T00:00:00Z","timestamp":1581897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Both point mutations and deletions of the <jats:italic>MYT1L<\/jats:italic> gene as well as microdeletions of chromosome band 2p25.3 including <jats:italic>MYT1L<\/jats:italic> are associated with intellectual disability, obesity, and behavioral problems. Thus, <jats:italic>MYT1L<\/jats:italic> is assumed to be the\u2014at least mainly\u2014causative gene in the 2p25.3 deletion syndrome. Here, we present comprehensive descriptions of nine novel individuals bearing <jats:italic>MYT1L<\/jats:italic> mutations; most of them single nucleotide variants (SNVs). This increases the number of known individuals with causative deletions or SNVs of <jats:italic>MYT1L<\/jats:italic> to 51. Since eight of the nine novel patients bear mutations affecting <jats:italic>MYT1L<\/jats:italic> only, the total number of such individuals now nearly equals the number of individuals with larger microdeletions affecting additional genes, allowing for a comprehensive phenotypic comparison of these two patient groups. For example, 55% of the individuals with mutations affecting <jats:italic>MYT1L<\/jats:italic> only were overweight or obese as compared to 86% of the individuals with larger microdeletions. A similar trend was observed regarding short stature with 5 versus 35%, respectively. However, these differences were nominally significant only after correction for multiple testing, further supporting the hypothesis that <jats:italic>MYT1L<\/jats:italic> haploinsufficiency is central to the 2p25.3 deletion phenotype. Most importantly, the large number of individuals with <jats:italic>MYT1L<\/jats:italic> mutations presented and reviewed here allowed for the delineation of a more comprehensive clinical picture. Seizures, postnatal short stature, macrocephaly, and microcephaly could be shown to be over\u2010represented among individuals with <jats:italic>MYT1L<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1002\/ajmg.a.61515","type":"journal-article","created":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T11:38:18Z","timestamp":1581939498000},"page":"1021-1031","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Nine newly identified individuals refine the phenotype associated with <i>MYT1L<\/i> mutations"],"prefix":"10.1002","volume":"182","author":[{"given":"Isabelle C.","family":"Windheuser","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Bonn, University Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7141-2991","authenticated-orcid":false,"given":"Jessica","family":"Becker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn, University Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"Cremer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn, University Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hela","family":"Hundertmark","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn, University Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura M.","family":"Yates","sequence":"additional","affiliation":[{"name":"Northern Genetics Service, Institute of Genetic Medicine International Centre for Life, Central Parkway  Newcastle upon Tyne UK"},{"name":"Laura M. 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