Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

Abstract

Distal myopathy with rimmed vacuoles (DMRV; MIM 605820) is an autosomal recessive neuromuscular disorder characterized by weakness of the anterior compartment of the lower limbs, sparing the quadriceps muscles. Recently, mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannos amine kinase (GNE) gene have been identified as the genetic basis of DMRV. To investigate the mutation spectrum of the GNE gene in Korean patients with DMRV, we performed clinical and genetic analysis of nine unrelated patients suspected to have DMRV. Direct sequencing analysis revealed that eight out of nine patients (88.9%) were either homozygous or compound heterozygous for GNE gene mutations, including three known (C13S, R129Q, and V572L) and two novel mutations (M29T and A591P). The allelic frequencies of the V572L and C13S mutations were 68.8% (11/16) and 12.5% (2/16), respectively. These results suggest that screening for GNE gene mutations in patients suspected to have DMRV would be helpful for molecular diagnosis of DMRV in the Korean population.

Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations

“…The GNE mutations appear to reflect a similar ethnic background between Korean and Japanese populations as previously shown in some other inherited muscle diseases [11,12]. Considering our study and another report on GNE mutations in Korean DMRV patients [13], V572L and C13S are the most frequent mutations among the Korean population.…”

A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy

“…Although the M29T mutation has been reported previously,7 the D208N mutation found in the present case is novel. Various GNE mutations have been identified in GNE myopathy patients from various ethnic groups.…”

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

“…4,5 A common founder effect has been suggested both for p.M712T among the Jewish population and p.V572L in Japanese and Korean patients. 4,7 In our series, all patients had p.V696M in one allele, suggesting that this may be the most common GNE mutation in ethnic Thais, although we have to await for further cases to accumulate to support this concept. Interestingly, p.V696M was previously reported in an Indian patient with HIBM.…”