Title: BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome
Authors: Breckpot, Jeroen ×
Tranchevent, Léon-Charles
Thienpont, Bernard
Bauters, Marijke
Troost, Els
Gewillig, Marc
Vermeesch, Joris
Moreau, Yves
Devriendt, Koenraad
Van Esch, Hilde #
Issue Date: 2012
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:55 issue:1 pages:12-16
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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Translational Genetics (Vesalius Research Center) (+)
Department of Human Genetics - miscellaneous
Laboratory for Genetics of Human Development
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
Human Genome Laboratory
Cardiovascular Developmental Biology
× corresponding author
# (joint) last author

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