title: Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.
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.
authors.affiliation: Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.|Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology (NUST), Islamabad, Pakistan.
authors.forename: H A
authors.initials: HA
authors.lastname: Sawal
authors.affiliation: Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.|Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Harripaul
authors.affiliation: Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Mikhailov
authors.affiliation: Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology (NUST), Islamabad, Pakistan.
authors.forename: R
authors.initials: R
authors.lastname: Dad
authors.affiliation: Department of Psychiatry, Queen's University, Kingston, ON, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Ayub
authors.affiliation: Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology (NUST), Islamabad, Pakistan.
authors.forename: M
authors.initials: M
authors.lastname: Jawad Hassan
authors.affiliation: Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.|Institute of Medical Science, University of Toronto, Toronto, ON, Canada.|Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
authors.forename: J B
authors.initials: JB
authors.lastname: Vincent
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D062556:NAV1.7 Voltage-Gated Sodium Channel / Q000737:chemistry / Q000235:genetics*; D000699:Pain Insensitivity, Congenital / Q000235:genetics* / Q000503:physiopathology; D010154:Pakistan; D010375:Pedigree; D011487:Protein Conformation
chemical_list: D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human