title: De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay.
abstract: 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 2.5 Mb 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].
authors: Department of Pediatric Cardiology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors: Colin J
authors: CJ
authors: McMahon
authors: Colm
authors: C
authors: Breathnach
authors: David R
authors: DR
authors: Betts
authors: Freddie H
authors: FH
authors: Sharkey
authors: Marie T
authors: MT
authors: Greally
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D024141:Collagen Type IV / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000503:physiopathology; D002658:Developmental Disabilities / Q000235:genetics / Q000503:physiopathology; D004310:Double Outlet Right Ventricle / Q000235:genetics* / Q000503:physiopathology; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000503:physiopathology; D012697:Serine Endopeptidases / Q000235:genetics
chemical_list: C547475:COL4A1 protein, human; C502625:COL4A2 protein, human; D024141:Collagen Type IV; C119812:CORIN protein, human; D012697:Serine Endopeptidases
keywords: COL4A1; COL4A2; CORIN; Congenital heart defect (CHD); array comparative genomic hybridization (array CGH); chromosome 13q33.3q34 deletion; double outlet right ventricle (DORV); dysmorphic craniofacial findings; inherited paternal gain at 4p12