{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T20:01:57Z","timestamp":1792353717828,"version":"4.4.0"},"reference-count":7,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T00:00:00Z","timestamp":1497916800000},"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":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in <jats:italic>VPS13B<\/jats:italic>, also known as <jats:italic>COH1<\/jats:italic>. Over 100 pathogenic variants in <jats:italic>VSP13B<\/jats:italic>, primarily truncations, and copy number variants, have been found in patients with CS. Here, we present an 11\u2010month\u2010old girl with CS caused by two multi\u2010exonic small deletions in <jats:italic>VSP13B<\/jats:italic> in <jats:italic>trans<\/jats:italic>. Array comparative genomic hybridization has revolutionized the field of genome copy number analysis down to the exonic level, however it has its limitations. It cannot detect balanced structural variation nor determine the phase of copy number variants. Heterozygous multi\u2010exonic copy number variation in autosomal recessive genes should be interpreted in the context of a clinical phenotype, and, if warranted, phase analysis should be performed before sequence analysis for that gene is pursued. This patient emphasizes the need of obtaining clinical information and determining the phase in multi\u2010exonic copy number variants for accurate diagnosis and risk counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38328","type":"journal-article","created":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T11:51:12Z","timestamp":1497959472000},"page":"2485-2488","source":"Crossref","is-referenced-by-count":8,"title":["The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci"],"prefix":"10.1002","volume":"173","author":[{"given":"Madelyn A.","family":"Gillentine","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7720-0663","authenticated-orcid":false,"given":"Ankita","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,6,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21360"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01693.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/375454"},{"key":"#cr-split#-e_1_2_6_5_1.1","unstructured":"Wang H. Falk M. J. Wensel C. &Traboulsi E. I. (2006). Cohen syndrome. In:R. A.Pagon M. P.Adam H. H.Ardinger S. E.Wallace A.Amemiya L. J. H.Bean \u2026K.Stephens(Eds.) GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington Seattle"},{"key":"#cr-split#-e_1_2_6_5_1.2","unstructured":"1993-2017. Aug 29 [Updated 2016 Jul 21]. Available from:https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1482\/."},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14601"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38328","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T20:26:41Z","timestamp":1696537601000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,20]]},"references-count":7,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1002\/ajmg.a.38328"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38328","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,20]]}}}