title: [Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].
abstract: OBJECTIVE
  To investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis.
  
  
  METHODS
  Five patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions.
  
  
  RESULTS
  All patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded.
  
  
  CONCLUSIONS
  The hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.
authors.affiliation: Department of Medical Genetics, Huaihua School of Medicine, Huaihua, Hunan, People's Republic of China.
authors.forename: Qiong
authors.initials: Q
authors.lastname: Zhang
authors.forename: Hai-ou
authors.initials: HO
authors.lastname: Jiang
authors.forename: Qing-li
authors.initials: QL
authors.lastname: Quan
authors.forename: Jun
authors.initials: J
authors.lastname: Li
authors.forename: Ting
authors.initials: T
authors.lastname: He
authors.forename: Xue-shuang
authors.initials: XS
authors.lastname: Huang
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: D051498:Receptor, Fibroblast Growth Factor, Type 3