Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan. Issue 6 (17th October 2016)

• Record Type: Journal Article
• Authors: Sawal, H.A.; Harripaul, R.; Mikhailov, A.; Dad, R.; Ayub, M.; Jawad Hassan, M.; Vincent, J.B.
• Is Part Of: Clinical genetics. Volume 90:Issue 6(2016)
• Page Start: 563
• Page End: 565
• Publication Date: 2016-10-17
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12860
• Languages: English
• ISSNs: 0009-9163

Abstract

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.