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

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.