title: Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
abstract: Distal myopathy with rimmed vacuoles (DMRVs) is an autosomal recessive vacuolar myopathy that has been reported in different ethnic populations with the common mutations of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. We presented the clinical, pathological and genetic characteristics of eight Chinese DMRV patients from six unrelated families. Six previously reported Chinese DMRV patients from four unrelated families were also reviewed for comparison in GNE mutations. In the present eight patients with DMRV, direct sequencing analysis revealed one homozygous mutation of c.1760T>C (p.I587T) and seven compound heterozygous mutations in the GNE gene. The latter included two known mutations, c.1892C>T (p.A631V) and c.527A>T (p.D176V), and three novel mutations, c.1523T>C (p.L508S), c.103G>A (p.E35K) and c.153A>G (p.I51M). The allelic frequency of c.1523T>C (p.L508S) was 25% in the Chinese patients with DMRV. Our findings expand the genetic spectrum of DMRV and indicate that the common mutations of GNE gene in DMRV may be variable among different ethnic populations.
authors.affiliation: Department of Neurology and Laboratory of Neuromuscular Disorders, Qilu Hospital of Shandong University, Jinan, China.
authors.forename: Honghao
authors.initials: H
authors.lastname: Li
authors.forename: Qi
authors.initials: Q
authors.lastname: Chen
authors.forename: Fuchen
authors.initials: F
authors.lastname: Liu
authors.forename: Xuemei
authors.initials: X
authors.lastname: Zhang
authors.forename: Tao
authors.initials: T
authors.lastname: Liu
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Shuping
authors.initials: S
authors.lastname: Liu
authors.forename: Yuying
authors.initials: Y
authors.lastname: Zhao
authors.forename: Bing
authors.initials: B
authors.lastname: Wen
authors.forename: Tingjun
authors.initials: T
authors.lastname: Dai
authors.forename: Pengfei
authors.initials: P
authors.lastname: Lin
authors.forename: Yaoqin
authors.initials: Y
authors.lastname: Gong
authors.forename: Chuanzhu
authors.initials: C
authors.lastname: Yan
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D049310:Distal Myopathies / Q000235:genetics* / Q000473:pathology; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014617:Vacuoles / Q000473:pathology
chemical_list: D017931:DNA Primers; D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase