{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:48:46Z","timestamp":1788306526991,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,9,14]],"date-time":"2017-09-14T00:00:00Z","timestamp":1505347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT098051"],"award-info":[{"award-number":["WT098051"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Although rare, 3p microdeletion cases have been well described in the clinical literature. The clinical phenotype includes; intellectual disability (ID), growth retardation, facial dysmorphism, and cardiac malformations. Advances in chromosome microarray (CMA) testing narrowed the 3p25 critical region to a 124\u2009kb region, and recent Whole Exome Sequencing (WES) studies have suggested that the <jats:italic>SETD5<\/jats:italic> gene contributes significantly to the 3p25 phenotype. Loss\u2010of\u2010Function (LoF) variants in <jats:italic>SETD5<\/jats:italic> are now considered a likely cause of ID. We report here a patient with a frameshift LoF variant in exon 12 of <jats:italic>SETD5<\/jats:italic>. This patient has features overlapping with other patients described with LoF <jats:italic>SETD5<\/jats:italic> variants to include; similar facial morphology, feeding difficulties, ID, behavioral abnormalities and leg length discrepancy. In addition, he presents with an aberrant blind ending bronchus. This report adds to publications describing intragenic mutations in <jats:italic>SETD5<\/jats:italic> and supports the assertion that de novo LoF mutations in <jats:italic>SETD5<\/jats:italic> present with an overlapping but distinct phenotype in comparison with 3p25 microdeletion syndromes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38461","type":"journal-article","created":{"date-parts":[[2017,9,14]],"date-time":"2017-09-14T08:06:44Z","timestamp":1505376404000},"page":"3165-3171","source":"Crossref","is-referenced-by-count":21,"title":["De novo <i>SETD5<\/i> loss\u2010of\u2010function variant as a cause for intellectual disability in a 10\u2010year old boy with an aberrant blind ending bronchus"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0483-1197","authenticated-orcid":false,"given":"Claire","family":"Green","sequence":"first","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust Sheffield 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