Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis.
- Author:
Bingxiao LI
1
;
Zhanhui ZHANG
;
Xia WU
;
Wenchao CHEN
;
Jianling CHEN
;
Qian LYU
;
Guosheng LIU
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; DNA Mutational Analysis; Exons; Female; Hereditary Sensory and Autonomic Neuropathies; diagnosis; genetics; Humans; Mutation; Receptor, trkA; genetics
- From: Chinese Journal of Medical Genetics 2017;34(5):646-649
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen for mutations of NTRK1 gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).
METHODSGenomic DNA was extracted from the proband and her family members. All of the 17 exons and intron-exon boundaries of the NTRK1 gene were analyzed by direct Sanger sequencing. For the deletional mutation, the PCR products were subjected to T-A cloning and sequencing to verify the mutation.
RESULTSNTRK1 gene analysis revealed that proband has carried a c.1786C>T (p.Arg596*) nonsense mutation inherited from her mother and a novel deletional mutation c.1928-2028+23del from her father. Her elder brother only carried the deletional mutation.
CONCLUSIONThe diagnosis of CIPA relied on typical clinical symptoms of no pain, anhidrosis and intellectual disability and detection of the biallelic NTRK1 mutations. The novel deletional mutation has enriched the spectrum of NTRK1 mutations.
