Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent

Journal of Neuromuscular Diseases
Sudha BhattacharyaAlok Bhattacharya

Abstract

GNE myopathy is an adult onset recessive genetic disorder that affects distal muscles sparing the quadriceps. GNE gene mutations have been identified in GNE myopathy patients all over the world. Homozygosity is a common feature in GNE myopathy patients worldwide. The major objective of this study was to investigate the mutation spectrum of GNE myopathy in India in relation to the population diversity in the country. We have collated GNE mutation data of Indian GNE myopathy patients from published literature and from recently identified patients. We also used data of people of Indian subcontinent from 1000 genomes database, South Asian Genome database and Strand Life Science database to determine frequency of GNE mutations in the general population. A total of 67 GNE myopathy patients were studied, of whom 21% were homozygous for GNE variants, while the rest were compound heterozygous. Thirty-five different mutations in the GNE gene were recorded, of which 5 have not been reported earlier. The most frequent mutation was p.Val727Met (65%) found mainly in the heterozygous form. Another mutation, p.Ile618Thr was also common (16%) but was found mainly in patients from Rajasthan, while p.Val727Met was more widely distributed. The lat...Continue Reading

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Citations

Nov 21, 2019·Neurology India·Kapila AwasthiSudha Bhattacharya
Oct 31, 2018·Frontiers in Neuroscience·Shreedarshanee DeviRanjana Arya
May 31, 2019·Orphanet Journal of Rare Diseases·Mohua Chakraborty Choudhury, Gayatri Saberwal
Oct 9, 2020·Journal of Muscle Research and Cell Motility·Kapila AwasthiAlok Bhattacharya
Nov 17, 2020·Muscle & Nerve·Satish V KhadilkarMadhuri R Hegde
Dec 4, 2019·Neuromuscular Disorders : NMD·Gaurav GomezSeena Vengalil

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