{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:31:50Z","timestamp":1790271110696,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,21]],"date-time":"2015-03-21T00:00:00Z","timestamp":1426896000000},"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":[[2015,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Deletions spanning the <jats:italic>MN1<\/jats:italic> gene (22q12.1) have recently been proposed as playing a role in craniofacial abnormalities that include cleft palate, as mouse studies have demonstrated that <jats:italic>Mn1<\/jats:italic> haploinsufficiency results in skull abnormalities and secondary cleft palate. We report on four patients (two families) with craniofacial abnormalities and intellectual disability with overlapping microdeletions that span the <jats:italic>MN1<\/jats:italic> gene. Comparative genomic hybridization microarray analysis revealed a 2.76\u2009Mb deletion in the 22q12.1 region, in three family members (Family 1), that contains the <jats:italic>MN1<\/jats:italic> gene. In addition, a complex 22q12 rearrangement, including a 1.61\u2009Mb deletion containing the <jats:italic>MN1<\/jats:italic>  gene and a 2.28\u2009Mb deletion encompassing the <jats:italic>NF2<\/jats:italic> gene, has been identified in another unrelated patient (Family 2). Based upon genotype\u2010phenotype correlation among our patients and those previously reported with overlapping 22q12 deletions, we identified a 560\u2009kb critical region containing the <jats:italic>MN1<\/jats:italic> gene that is implicated in human cleft palate formation. Importantly, <jats:italic>NF2<\/jats:italic> was also found within the 22q12 deletion region in several patients which enabled specific clinical management for neurofibromatosis 2. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36839","type":"journal-article","created":{"date-parts":[[2015,3,24]],"date-time":"2015-03-24T18:00:33Z","timestamp":1427220033000},"page":"1047-1053","source":"Crossref","is-referenced-by-count":18,"title":["Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the <i>MN1<\/i> gene"],"prefix":"10.1002","volume":"167","author":[{"given":"Megan","family":"Beck","sequence":"first","affiliation":[{"name":"Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jess F.","family":"Peterson","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania"},{"name":"Pittsburgh Cytogenetics Laboratory Center for Medical Genetics and Genomics Magee\u2010Womens Hospital of UPMC Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliann","family":"McConnell","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"McGuire","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miya","family":"Asato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Child Neurology Children's Hospital of Pittsburgh of UPMC 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