1. Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome
- Author
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Jiang, Lu, Chen, Hongsheng, Jiang, Wen, Hu, Zhengmao, Mei, Lingyun, Xue, Jingjie, He, Chufeng, Liu, Yalan, Xia, Kun, and Feng, Yong
- Subjects
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KLEIN-Waardenburg syndrome , *GENETIC mutation , *HIRSCHSPRUNG'S disease , *NUCLEOTIDE sequence , *GENE expression , *MEDICAL records , *CASE studies , *GENETICS - Abstract
Abstract: 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. [Copyright &y& Elsevier]
- Published
- 2011
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