title: [A novel mutation of NTRK1 gene in a family with congenital insensitivity to pain with anhidrosis].
abstract: OBJECTIVE
  To screen for mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).
  
  
  METHODS
  With informed consent obtained, peripheral blood samples were obtained from the patient and his family members. Seventeen coding exons and intron-exon boundaries of the NTRK1 gene were amplified with PCR and analyzed by direct sequencing.
  
  
  RESULTS
  A novel mutation c.2086_2087insC (p.Arg696 fsx) was identified in exon 16 of the NTRK1 gene in the proband. This insertion has caused open reading frame shifting and a premature termination has occurred just one codon downstream. Truncation of 72 amino acids at the C terminus has wiped out part of the tyrosine kinase domain (TKD) of the protein. Both of the proband's parents and two grandmothers have carried the c.2086_2087insC (p.Arg696 fsx) mutation. No mutation was found in the NTRK1 gene of other siblings.
  
  
  CONCLUSIONS
  Mutation analysis of the NTRK1 gene has been carried out in a Chinese family affected with CIPA, and a novel NTRK1 gene mutation was identified.
authors.affiliation: Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, P.R.China. fhlan009@qq.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Tang
authors.forename: Dezhu
authors.initials: D
authors.lastname: Zheng
authors.forename: Qingqin
authors.initials: Q
authors.lastname: Li
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Wang
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Lin
authors.forename: Fenghua
authors.initials: F
authors.lastname: Lan
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D020917:Receptor, trkA / Q000235:genetics*
chemical_list: D020917:Receptor, trkA