{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T09:30:27Z","timestamp":1790847027747,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T00:00:00Z","timestamp":1684713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SRRM2<\/jats:italic>\u2010related neurodevelopmental disorder is a recently described genetic diagnosis caused by loss\u2010of\u2010function variants in <jats:italic>SRRM2<\/jats:italic>. In order to understand the clinical spectrum of <jats:italic>SRRM2<\/jats:italic>\u2010related neurodevelopmental disorder, we performed a retrospective exome data and clinical chart review at a single tertiary children's hospital, Children's Hospital of Philadelphia (CHOP). Among approximately 3100 clinical exome sequencing cases performed at CHOP, we identified three patients with <jats:italic>SRRM2<\/jats:italic> loss\u2010of\u2010function pathogenic variants, in addition to one patient previously described in the literature. Common clinical features include developmental delay, attention deficit hyperactivity disorder, macrocephaly, hypotonia, gastroesophageal reflux, overweight\/obesity, and autism. While developmental disabilities are commonly seen in all individuals with <jats:italic>SRRM2<\/jats:italic> variants, the degree of developmental delay and intellectual disability is variable. Our data suggest that <jats:italic>SRRM2<\/jats:italic>\u2010related neurodevelopmental disorder can be identified in 0.3% of individuals with developmental disabilities receiving exome sequencing.<\/jats:p>","DOI":"10.1002\/ajmg.a.63302","type":"journal-article","created":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T12:39:33Z","timestamp":1684759173000},"page":"2149-2155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Retrospective identification of patients with <i>SRRM2<\/i>\u2010related neurodevelopmental disorder in a single tertiary children's hospital"],"prefix":"10.1002","volume":"191","author":[{"given":"Kelly E.","family":"Regan\u2010Fendt","sequence":"first","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyssa 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