Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

Abstract

Distal myopathy with rimmed vacuoles (DMRV) is an early-adult-onset, distal myopathy caused by a mutation of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE) gene. We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M). All patients shared p.V696M in one allele. Our study demonstrates the mutation spectrum of the GNE gene in Thai patients with DMRV.

GNE myopathy in India

“…Findings in the present study and earlier studies, p.Val696Met substitution appears to be the most common mutation in both India and Thailand. [22] In this study, four patients from three families had only one heterozygous mutation in GNE gene. The second mutation may not be detectable using the present method, which detects only large deletions in the GNE gene.…”

Limb-girdle muscular dystrophies in India: A review

“…[86] p.A662V and p.V727M are a frequently found mutation in Southeast Asia. [878889] A potential founder mutation p.A409T was described in a cohort of GNE myopathy patients from the British Islands. [90]…”

Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing

“…The GNE gene is ubiquitously expressed and has two functional domains: the epimerase and the kinase domains located in the N-terminus encoding the N-actylglucosamine 2 epimerase and the C-terminus encoding the N-acetylmannosamine kinase, respectively [14,19]. Mutations in GNE have been linked to not only DMRV (MIM 605820) [27,29] but also sialuria (MIM 269921) [13,24].…”

“…Mutations in GNE have been linked to not only DMRV (MIM 605820) [27,29] but also sialuria (MIM 269921) [13,24]. In particular, many mutations of GNE have been reported to be the underlying causes of DMRV [6,9,11,14,15,18,29].…”