Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2017
[Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing].
СтатьяНазвание и аннотация: Перевод в очереди
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Hu Lin, Li Huanzheng, Luan Zhaotang, Xu Xueqin, Chen Chong, Wu Ke, Tang Shaohua
Аннотация
OBJECTIVE: To carry out mutation analysis for a Chinese family affected with Escobar syndrome.
METHODS: Whole exome sequencing (WES) was employed to detect potential mutation in the proband. Suspected mutations were validated by combining clinical data and result of Sanger sequencing.
RESULTS: A homozygous missense mutation c.715C>T (p.R239C) was detected in the proband and his brother who was also affected. The parents and the daughters of the proband carried the heterozygous mutation c.715C>T, while other family members did not carry the mutation.
CONCLUSION: Escobar syndrome is a rare genetic disorder. WES is able to discover genetic mutation underlying this disorder and facilitate genetic counseling and prenatal diagnosis for the affected family.
METHODS: Whole exome sequencing (WES) was employed to detect potential mutation in the proband. Suspected mutations were validated by combining clinical data and result of Sanger sequencing.
RESULTS: A homozygous missense mutation c.715C>T (p.R239C) was detected in the proband and his brother who was also affected. The parents and the daughters of the proband carried the heterozygous mutation c.715C>T, while other family members did not carry the mutation.
CONCLUSION: Escobar syndrome is a rare genetic disorder. WES is able to discover genetic mutation underlying this disorder and facilitate genetic counseling and prenatal diagnosis for the affected family.