{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:51:08Z","timestamp":1788306668075,"version":"build-2803163510"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,4,22]],"date-time":"2010-04-22T00:00:00Z","timestamp":1271894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe visual impairment, hypotonia, profound intellectual disability, and refractory epilepsy. The homozygous deletion of the genes within this deleted region provides a useful insight into the pathogenesis of the observed clinical phenotype. Absence of the Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (<jats:italic>TRPM1<\/jats:italic>) gene product is proposed as a possible mechanism for the severe visual impairment; absence of <jats:italic>CHRNA7<\/jats:italic> (alpha7\u2010nicotinic receptor subunit) as a cause of the refractory seizures and severe cognitive impairment; and deletion of <jats:italic>MTMR10<\/jats:italic> and\/or <jats:italic>MTMR15<\/jats:italic> (encoding myotubularin related proteins) alone or combined with other homozygously deleted genes as a cause for the congenital hypotonia with areflexia. The distinctive clinical findings in this patient reveal potential functions of the genes within the deleted region. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33374","type":"journal-article","created":{"date-parts":[[2010,4,22]],"date-time":"2010-04-22T19:59:46Z","timestamp":1271966386000},"page":"1300-1304","source":"Crossref","is-referenced-by-count":55,"title":["A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the <i>TRPM1<\/i>, <i>CHRNA7<\/i>, and other homozygously deleted genes"],"prefix":"10.1002","volume":"152A","author":[{"given":"Jean\u2010Baptiste","family":"LePichon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas C.","family":"Bittel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William 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