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 and Biotechnology Charles Darwin, Sapienza University of Rome, Rome, Italy
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: 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.

2. A Case of Congenital Insensitivity to Pain With Anhidrosis Comorbid With Attention Deficit Hyperactivity Disorder: Clinical Implications for Pathophysiology and Treatment, Journal of Nervous and Mental Disease (2018)

Experts (# of related papers)

Javad Alaghband-Rad (1)

Mahtab Motamed (1)

Style	Citing Format
MLA	Hajiesmaeil M, et al.. "A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis." The Neurobiology# Physiology# and Psychology of Pain, vol. , no. , 2021, pp. 13-21.
APA	Hajiesmaeil M, Yazarlou F, Sobhani M, Ghafourifard S (2021). A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis. The Neurobiology# Physiology# and Psychology of Pain, (), 13-21.
Chicago	Hajiesmaeil M, Yazarlou F, Sobhani M, Ghafourifard S. "A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis." The Neurobiology# Physiology# and Psychology of Pain , no. (2021): 13-21.
Harvard	Hajiesmaeil M et al. (2021) 'A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis', The Neurobiology# Physiology# and Psychology of Pain, (), pp. 13-21.
Vancouver	Hajiesmaeil M, Yazarlou F, Sobhani M, Ghafourifard S. A New Mutation in Ntrk1 Gene Is Associated With Congenital Insensitivity to Pain Without Anhidrosis. The Neurobiology# Physiology# and Psychology of Pain. 2021;():13-21.
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 = {The Neurobiology# Physiology# and Psychology of Pain}, volume = {}, number = {}, pages = {13-21}, year = {2021} }
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 - The Neurobiology# Physiology# and Psychology of Pain VL - IS - SP - 13 EP - 21 PY - 2021 ER -

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