A Genetic Mutation Study in a Pedigree with Type II Waardenburg Syndrome
GAO Zixuan
LI Jinhong
LU Yu
WANG Yanfei
CHENG Jing
YUAN Huijun
MA Furong
Abstract：Objective To study the molecular etiology in a family affected with type II Waardenburg syndrome (WS2 ) to increase our knowledge for improved genetic analysis and counseling for WS2. Methods A patient with type II WS was inter-viewed with questionnaires. Genomic DNA of the patient and his family members was extracted. Complete coding exons of the MITF, SNAI2, EDNRB, EDN3, SOX10 and PAX3 genes were amplified and sequenced to identify mutations. The raw data were analyzed with the GeneTool software and information from molecular biological websites. Results No pathological muta-tions with a clear relationship to WS2 was found in the WS2 relevant genes of MITF, SNAI2, EDNRB, EDN3, SOX10 and PAX3. Conclusion We speculate that there are other new causative genes for WS2, which need to be further studied with whole exome sequencing (WES).
Keywords：Waardenburg syndrome type ⅡGenetic diagnosisGenetic counselingWES
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 271-274 )