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[Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing]
Lin Hu1, Huanzheng Li, Zhaotang Luan
1School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China. tsh006@163.com.
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.