title: [Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China. tsh006@163.com.
authors.forename: Lin
authors.initials: L
authors.lastname: Hu
authors.forename: Huanzheng
authors.initials: H
authors.lastname: Li
authors.forename: Zhaotang
authors.initials: Z
authors.lastname: Luan
authors.forename: Xueqin
authors.initials: X
authors.lastname: Xu
authors.forename: Chong
authors.initials: C
authors.lastname: Chen
authors.forename: Ke
authors.initials: K
authors.lastname: Wu
authors.forename: Shaohua
authors.initials: S
authors.lastname: Tang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D012868:Skin Abnormalities / Q000235:genetics*; D055815:Young Adult