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A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis Publisher



Hajiesmaeil M1 ; Yazarlou F2 ; Sobhani M3 ; Ghafourifard S4
Authors

Source: The Neurobiology# Physiology# and Psychology of Pain Published:2021


Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessive disease described 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 define the first defined case from Iran. The patient was a 10-month-old girl born to a healthy consanguineous Iranian parent with family history of CIPA. Unpredictably, the cases had normal sweating. Whole-exome sequencing discovered 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 hints 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 enhances to the source NTRK1 mutations. © 2022 Elsevier Inc. All rights reserved.
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