首例和第二例中国 IV 型 Waardenburg 综合征中 SOX10 基因突变。
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
机构信息
Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
出版信息
Biochem Biophys Res Commun. 2011 May 20;408(4):620-4. doi: 10.1016/j.bbrc.2011.04.072. Epub 2011 Apr 21.
OBJECTIVE
We analyzed the clinical features and family-related gene mutations for the first two Chinese cases of type IV Waardenburg syndrome (WS4).
METHODS
Two families were analyzed in this study. The analysis included a medical history, clinical analysis, a hearing test and a physical examination. In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients.
RESULTS
The two WS4 cases presented with high phenotypic variability. Two novel heterozygous mutations (c.254G>A and c.698-2A>T) in the SOX10 gene were detected. The mutations identified in the patients were not found in unaffected family members or in 200 unrelated control subjects.
CONCLUSIONS
This is the first report of WS4 in Chinese patients. In addition, two novel mutations in SOX10 gene have been identified.
目的
我们分析了首例和第二例中国 4 型瓦登伯格综合征（WS4）患者的临床特征和家族相关基因突变。
方法
本研究分析了两个家系。分析内容包括病史、临床分析、听力测试和体格检查。此外，还对 EDNRB、EDN3 和 SOX10 基因进行了测序，以确定导致患者出现 WS4 的致病突变。
结果
这两个 WS4 病例表现出高度的表型变异性。在 SOX10 基因中检测到两个新的杂合突变（c.254G>A 和 c.698-2A>T）。患者中发现的突变未在未受影响的家庭成员或 200 名无关对照中发现。
结论
这是中国患者 WS4 的首次报告。此外，还确定了 SOX10 基因中的两个新突变。
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