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A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis
- Publication Year :
- 2019
- Publisher :
- Elsevier, 2019.
-
Abstract
- Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessive disease characterized by pain insensitivity, frequent intermittent fevers, anhidrosis, self-mutilating actions and mental retardation. Germline mutations in NTRK1 gene have been associated with CIPA. In the current study, we describe the first reported case from Iran. The patient was a 10 month old girl born to a healthy consanguineous Iranian parent with family history of CIPA. Unexpectedly, the cases had normal sweating. Whole exome sequencing revealed a new likely pathogenic mutation in the exon 13 of NTRK1 gene (NM_002529.3) in the proband in homozygote state (c.1524_1531dupGGACATCG, p.Val511Glyfs*39). The frameshift mutation leads to early termination of the coding sequence, which is anticipated to affect the protein function. Sanger sequencing confirmed the results in the proband and other affected members of the family. In addition, Sanger sequencing showed that parents carry the same mutation in heterozygote state. The current study shows a different phenotypic variant of CIPA in Iranian population and adds to the repository NTRK1 mutations.
- Subjects :
- 0301 basic medicine
Genetics
Proband
Sanger sequencing
business.industry
NTRK1
Mutation
Insensitivity to pain
medicine.disease
Frameshift mutation
03 medical and health sciences
symbols.namesake
030104 developmental biology
0302 clinical medicine
Germline mutation
Congenital insensitivity to pain with anhidrosis
030220 oncology & carcinogenesis
medicine
symbols
Anhidrosis
medicine.symptom
business
Genetics (clinical)
Exome sequencing
Congenital insensitivity to pain
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....9a5b211a94269d0cf2bf187d1eaf3783