一名患有智力发育迟缓及先天性心脏缺陷的史密斯-马吉尼斯综合征患者的17p11.2微缺失：来自中国的首例报告。

Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.

作者信息

Huang C, Yang Y-F, Zhang H, Xie L, Chen J-L, Wang J, Tan Z-P, Luo H

机构信息

Department of Cardiothoracic Surgery, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

出版信息

Genet Mol Res. 2012 Aug 13;11(3):2321-7. doi: 10.4238/2012.August.13.5.

DOI:10.4238/2012.August.13.5

PMID:22911601

Abstract

Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, mental retardation, and behavioral problems (self hugging, sleeping disturbance). High-resolution genome wide single nucleotide polymorphism array revealed a 3.7-Mb deletion in chromosome region 17p11.2. This chromosome region contains RAI1, a critical gene involved in SMS. To the best of our knowledge, this is the first report of an SMS patient in mainland China.

摘要

史密斯-马吉尼斯综合征（SMS）是一种罕见的综合征，伴有多种先天性畸形，包括发育和智力迟缓、行为问题以及独特的面部外观。SMS由RAI1单倍剂量不足（RAI1缺失或突变）引起。我们描述了一名8岁中国女性患者，她有多种畸形、先天性心脏缺陷、智力迟缓以及行为问题（自我拥抱、睡眠障碍）。高分辨率全基因组单核苷酸多态性阵列显示17p11.2染色体区域存在3.7兆碱基的缺失。该染色体区域包含RAI1，这是一个与SMS相关的关键基因。据我们所知，这是中国大陆首例SMS患者的报告。