title: [Study of two Chinese families affected with resistant ovarian syndrome resulted from novel mutations of FSHR gene].
abstract: OBJECTIVE
  To explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles.
  
  
  METHODS
  Peripheral venous blood samples were collected from the families for the extraction of genomic DNA. Mutations of FSHR and LHCGR genes were screened using PCR and Sanger sequencing. Suspected pathogenic mutations were verified in other members of the families. Bioinformatics software and NCBI were used to analyze the pathogenicity of the mutations.
  
  
  RESULTS
  Two previously unreported homozygous mutations, c.419delA and c.1510C>T of the FSHR gene were found in the probands of family I and II, respectively. Pedigree and bioinformatics analysis suggested that both mutations were pathogenic. Literature review suggested that both families were affected with resistant ovary syndrome rather than premature ovarian failure.
  
  
  CONCLUSIONS
  Two novel mutations of the FSHR gene have been identified, which have enriched the spectrum of FSHR gene mutations and provided a basis for genetic counseling and direction for reproduction.
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China. tanyueqiu@csu.edu.cn.
authors.forename: Wen
authors.initials: W
authors.lastname: Li
authors.forename: Wenbin
authors.initials: W
authors.lastname: He
authors.forename: Lihua
authors.initials: L
authors.lastname: Zhou
authors.forename: Xiao
authors.initials: X
authors.lastname: Hu
authors.forename: Shuangfei
authors.initials: S
authors.lastname: Li
authors.forename: Fei
authors.initials: F
authors.lastname: Gong
authors.forename: Yueqiu
authors.initials: Y
authors.lastname: Tan
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010049:Ovarian Diseases / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011962:Receptors, FSH / Q000235:genetics*; D055815:Young Adult
chemical_list: D011962:Receptors, FSH