Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 5, Pages 1134-1141Publisher
WILEY
DOI: 10.1002/ajmg.a.36978
Keywords
Congenital heart defect (CHD); double outlet right ventricle (DORV); chromosome 13q33; 3q34 deletion; dysmorphic craniofacial findings; array comparative genomic hybridization (array CGH); COL4A1; COL4A2; inherited paternal gain at 4p12; CORIN
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We describe a 6-year-old male, diagnosed at birth with double outlet right ventricle (DORV), anterior aorta, multiple ventricular septal defects, pulmonary stenosis, microcephaly and mildly dysmorphic craniofacial findings. Chromosomal analysis showed a normal male karyotype but on subsequent array comparative genomic hybridization (array CGH) analysis a de novo 2.5Mb loss in chromosome 13q at 13q33.3q34, together with an inherited gain at 4p12, were detected. The propositus underwent placement of a Blalock Taussig shunt and subsequently a Glenn and Fontan operation was performed. In this report we propose that COL4A1 and COL4A2 may be candidate genes for congenital heart disease (CHD) in individuals with a deletion in 13q within the 6Mb critical region for cardiac development proposed by Huang et al., [2012]. (c) 2015 Wiley Periodicals, Inc.
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