Cleft Palate in a Multigenerational Family with a Microdeletion of 20p12.3 Involving BMP2

摘要

Cleft palate 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, haploinsufficency of BMP2 was associated with syndromic forms of cleft palate (CP). Here, we report on a multigenerational family with a history of cleft palate as a result of a 2.3 Megabase (Mb) deletion of chromosome 20p12.3, including the BMP2 gene. In addition to a submucous cleft palate, the proband’s clinical phenotype included failure to thrive (FTT), global developmental delays (DD), and dysmorphic features. The affected father exhibited an overt cleft palate, 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 cleft palate.