A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region

Abstract

13q deletion syndrome is a rare genetic disorder, especially for group 3 deletion (13q33-q34 deletion). Previously we described a patient with congenital heart defect and mental retardation and proposed that a distal 6Mb region might contain the causative gene of congenital heart defect. Here we present a new patient with congenital heart defects (CHD), hand and foot anomalies and mild mental retardation. We identified a 1.1Mb deletion at chromosome 13q34 with high resolution SNP-array BeadChips (HumanOmni1-Quad, Illumina, USA). This chromosome region contains ten annotated genes, including GRK1, TFDP1, RASA3 and GAS6. To our knowledge, this represents the smallest 13q34 deletion identified to date. Our study provides additional support that distal 13q34 deletion region might contain key gene(s) responsible for cardiac development.

Keywords: 13q deletion syndrome; 13q34 deletion; CGH-array; CHD; CNV; Congenital heart defect; Copy number variation; DGV; Database of Genomic Variants; Hg19; IQ; Intelligence quotient; Microdeletion; OMIM; Online Mendelian Inheritance in Man; PCR; PPA; Postaxial polydactyly; SA; SNP; comparative genomic hybridization array; congenital heart defects; copy number variation; human genome 19; polymerase chain reaction; postaxial polydactyly; single atrium; single nucleotide polymorphism.