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

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

Hajiesmaeil M¹ ; Yazarlou F² ; Sobhani M³ ; Ghafourifard S⁴

Show Affiliations

1. Department of Biology, Parand Branch, Islamic Azad University, Parand, Iran
2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
3. Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
4. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Meta Gene Published: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. © 2019

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Style	Citing Format
MLA	Hajiesmaeil M, et al.. "A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis." Meta Gene, vol. 20, no. , 2019, pp. -.
APA	Hajiesmaeil M, Yazarlou F, Sobhani M, Ghafourifard S (2019). A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis. Meta Gene, 20(), -.
Chicago	Hajiesmaeil M, Yazarlou F, Sobhani M, Ghafourifard S. "A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis." Meta Gene 20, no. (2019): -.
Harvard	Hajiesmaeil M et al. (2019) 'A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis', Meta Gene, 20(), pp. -.
Vancouver	Hajiesmaeil M, Yazarlou F, Sobhani M, Ghafourifard S. A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis. Meta Gene. 2019;20():-.
BibTex	@article{ author = {Hajiesmaeil M and Yazarlou F and Sobhani M and Ghafourifard S}, title = {A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis}, journal = {Meta Gene}, volume = {20}, number = {}, pages = {-}, year = {2019} }
RIS	TY - JOUR AU - Hajiesmaeil M AU - Yazarlou F AU - Sobhani M AU - Ghafourifard S TI - A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis JO - Meta Gene VL - 20 IS - SP - EP - PY - 2019 ER -

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