A novel mutation of NTRK1 gene in a family with congenital insensitivity to pain with anhidrosis.
- Author:
Ying TANG
1
;
Dezhu ZHENG
;
Qingqin LI
;
Zhihong WANG
;
Yanhong LIN
;
Fenghua LAN
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Child, Preschool; DNA Mutational Analysis; Exons; genetics; Hereditary Sensory and Autonomic Neuropathies; genetics; Humans; Male; Mutation; Polymerase Chain Reaction; Receptor, trkA; genetics
- From: Chinese Journal of Medical Genetics 2014;31(5):574-577
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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).
METHODSWith 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.
RESULTSA 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.
CONCLUSIONMutation analysis of the NTRK1 gene has been carried out in a Chinese family affected with CIPA, and a novel NTRK1 gene mutation was identified.
