title: 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-acetylmannosamine 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 A591T) [corrected] 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.
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Byoung Joon
authors.initials: BJ
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Department of Physical Medicine and Rehabilitation, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Duk Hyun
authors.initials: DH
authors.lastname: Sung
authors.affiliation: Department of Neurology, Brain Korea 21 Project for Medicine, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Young-Chul
authors.initials: YC
authors.lastname: Choi
authors.affiliation: Department of Neurology, College of Medicine, Hanyang University, Seoul, South Korea.
authors.forename: Seung Hyun
authors.initials: SH
authors.lastname: Kim
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase