Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan

H A Sawal; R Harripaul; A Mikhailov; R Dad; M Ayub; M Jawad Hassan; J B Vincent

doi:10.1111/cge.12860

Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan

Clin Genet. 2016 Dec;90(6):563-565. doi: 10.1111/cge.12860. Epub 2016 Oct 17.

Authors

H A Sawal^{1

2}, R Harripaul^{1

3}, A Mikhailov¹, R Dad², M Ayub⁴, M Jawad Hassan², J B Vincent^{1

3

5}

Affiliations

¹ Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.
² Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology (NUST), Islamabad, Pakistan.
³ Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
⁴ Department of Psychiatry, Queen's University, Kingston, ON, Canada.
⁵ Department of Psychiatry, University of Toronto, Toronto, ON, Canada.

PMID: 27747863
DOI: 10.1111/cge.12860

Abstract

(a) Homozygosity-mapping-by-descent of four Bhakkar congenital indifference/insensitivity to pain (CIP) families. (b) Identification of mutation Met1190* in SCN9A. (c) SCN9A/NaV1.7 2D structure (as predicted by CCTOP and SMART) and approximate position of known nonsense (*) and missense (M) mutations ( www.hgmd.cf.ac.uk), as well as the Bhakkar mutation (this study) in red.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

DNA Mutational Analysis
Female
Homozygote
Humans
Male
Mutation*
NAV1.7 Voltage-Gated Sodium Channel / chemistry
NAV1.7 Voltage-Gated Sodium Channel / genetics*
Pain Insensitivity, Congenital / genetics*
Pain Insensitivity, Congenital / physiopathology
Pakistan
Pedigree
Protein Conformation

Substances

NAV1.7 Voltage-Gated Sodium Channel
SCN9A protein, human