A 1.1 Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: Additional support for a CHD locus at distal 13q34 region |
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| Authors: | Yi-Feng Yang Qi Ai Can Huang Jin-Lan Chen Jian Wang Li Xie Wei-Zhi Zhang Jin-Fu Yang Zhi-Ping Tan |
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| Affiliation: | 1. Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China;2. Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China |
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| 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 6 Mb 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 1.1 Mb 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. |
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| Keywords: | CNV, copy number variation CHD, congenital heart defects SNP, single nucleotide polymorphism CGH-array, comparative genomic hybridization array PCR, polymerase chain reaction IQ, Intelligence quotient OMIM, Online Mendelian Inheritance in Man Hg19, human genome 19 SA, single atrium PPA, postaxial polydactyly DGV, Database of Genomic Variants |
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