title: Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2.
abstract: Cleft palate (CP) is a frequent and recognizable birth defect attributed to a variety of etiologies including genetic abnormalities and environmental exposures. Bone morphogenetic proteins (BMPs) are involved in embryonic signaling important for a number of developmental processes including bone formation and palate morphogenesis. Recently, haploinsufficiency of BMP2 was associated with syndromic forms of CP. Here, we report on a multigenerational family with a history of CP as a result of a 2.3 Mb deletion of chromosome 20p12.3, including the BMP2 gene. In addition to a submucous CP, the proband's clinical phenotype included failure to thrive (FTT), global developmental delays (DD), and dysmorphic features. The affected father exhibited an overt CP, with a facial gestalt and minor dysmorphic features similar to the proband. The father was otherwise healthy with no history of FTT or DD, suggesting high penetrance, yet variable expressivity for haploinsufficiency of BMP2. The findings presented here provide further evidence for the role of BMP2 in syndromic forms of CP.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
authors.forename: Eli S
authors.initials: ES
authors.lastname: Williams
authors.forename: Kim A
authors.initials: KA
authors.lastname: Uhas
authors.forename: Brian P
authors.initials: BP
authors.lastname: Bunke
authors.forename: Kathryn B
authors.initials: KB
authors.lastname: Garber
authors.forename: Christa L
authors.initials: CL
authors.lastname: Martin
mesh_terms: D000328:Adult; D000368:Aged; D055396:Bone Morphogenetic Protein 2 / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D006801:Humans; D008297:Male
chemical_list: C525718:BMP2 protein, human; D055396:Bone Morphogenetic Protein 2