title: Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
abstract: We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.
authors.forename: Olivia K
authors.initials: OK
authors.lastname: Gardner
authors.forename: Karla
authors.initials: K
authors.lastname: Haynes
authors.forename: Daniela
authors.initials: D
authors.lastname: Schweitzer
authors.forename: Alexis
authors.initials: A
authors.lastname: Johns
authors.forename: William P
authors.initials: WP
authors.lastname: Magee
authors.forename: Mark M
authors.initials: MM
authors.lastname: Urata
authors.forename: Pedro A
authors.initials: PA
authors.lastname: Sanchez-Lara
mesh_terms: D000009:Abdominal Muscles / Q000002:abnormalities*; D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D037222:Collectins / Q000235:genetics*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D003456:Cryptorchidism / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics*; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D050606:Mannose-Binding Protein-Associated Serine Proteases / Q000235:genetics*; D010154:Pakistan; D012307:Risk Factors; D013285:Strabismus / Q000235:genetics*
chemical_list: C518521:Colec11 protein, human; D037222:Collectins; C084067:MASP1 protein, human; D050606:Mannose-Binding Protein-Associated Serine Proteases
keywords: cleft lip and palate; genetics; microarray; molecular diagnostics; syndromic orofacial clefting