Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Gene. 2013 Oct 1;528(1):51-4. doi: 10.1016/j.gene.2013.03.145. Epub 2013 Apr 29.
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.
13q 缺失综合征是一种罕见的遗传疾病，特别是对于第 3 组缺失（13q33-q34 缺失）。之前我们描述了一位患有先天性心脏病和智力障碍的患者，并提出远端 6Mb 区域可能包含先天性心脏病的致病基因。在这里，我们介绍了一位新的患有先天性心脏病（CHD）、手足畸形和轻度智力障碍的患者。我们使用高分辨率 SNP-array BeadChips（HumanOmni1-Quad，Illumina，USA）鉴定了染色体 13q34 上的 1.1Mb 缺失。该染色体区域包含十个注释基因，包括 GRK1、TFDP1、RASA3 和 GAS6。据我们所知，这是迄今为止鉴定到的最小的 13q34 缺失。我们的研究提供了额外的支持，即远端 13q34 缺失区域可能包含负责心脏发育的关键基因。
