应用全外显子测序技术对一个Escobar综合征家系进行基因突变分析

Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing

目的对1例Escobar综合征患者及其家系成员进行基因突变分析，为遗传咨询及产前诊断提供依据。方法应用全外显子测序技术对疑似为Escobar综合征的先证者进行致病基因筛查，结合临床表型资料，锁定候选基因致病位点，结合Sanger测序技术对先证者及其家系成员进行致病突变验证。结果发现先证者及其胞弟均携带CHRNG基因c．715C〉T（p．R239C）纯合突变，先证者父母及其女儿均为CHRNG基因c．715C〉T突变携带者，其他正常家系成员未携带该突变。结论Escobar综合征是一种罕见的遗传病，应用全外显子测序技术能够快速发现Escobar综合征基因突变，有助于该家系的遗传咨询及产前诊断。

Objective To carry out mutation analysis for a Chinese family affected with Eseobar 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,