title: BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.
abstract: Congenital heart defects (CHD) are associated with the recurrent 10q22q23 deletion syndrome and with partially overlapping distal 10q23.2.q23.31 microdeletions. We report on a de novo intragenic deletion of the BMPR1A gene in a normally developing adolescent boy with short stature, delayed puberty, facial dysmorphism and an atrioventricular septal defect. Based on this finding, complemented with computational prioritization data and molecular evidence in literature, the critical region for CHD on 10q23 can be downsized to a single gene, BMPR1A. Although loss-of-function mutations in BMPR1A typically result in juvenile polyposis syndrome, none of the patients with the typical 10q22q23 microdeletion syndrome, comprising this gene, were reported to have juvenile polyposis thus far. We reason that, even in the absence of juvenile polyposis syndrome, sequencing and copy number analysis of BMPR1A should be considered in patients with (atrioventricular) septal defects, especially when associated with facial dysmorphism and anomalous growth.
authors: Center for Human Genetics, University Hospitals Leuven, Herestraat 49, bus 602, B-3000 Leuven, Belgium. Jeroen.Breckpot@uz.kuleuven.be
authors: Jeroen
authors: J
authors: Breckpot
authors: Léon-Charles
authors: LC
authors: Tranchevent
authors: Bernard
authors: B
authors: Thienpont
authors: Marijke
authors: M
authors: Bauters
authors: Els
authors: E
authors: Troost
authors: Marc
authors: M
authors: Gewillig
authors: Joris R
authors: JR
authors: Vermeesch
authors: Yves
authors: Y
authors: Moreau
authors: Koenraad
authors: K
authors: Devriendt
authors: Hilde
authors: H
authors: Van Esch
mesh_terms: D000293:Adolescent; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D017353:Gene Deletion; D018628:Gene Dosage; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I