title: Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.
abstract: Mutations in the multiple epidermal growth factor-like domains 10 (MEGF10: NM_032446.2) gene are known to cause early-onset myopathy characterized by areflexia, respiratory distress, and dysphagia (EMARDD: OMIM 614399), and a milder phenotype of minicore myopathy. To date, there have been reports of six families with EMARDD and one with a milder disorder. Cysteine mutations in the extracellular EGF-like domain may be responsible for the milder phenotype, but the relationship is not conclusive because of the few reports of this disorder. We here present two Japanese patients with MEGF10 mutations: one with EMARDD phenotype who had a novel homozygous frameshift mutation, c.131_132del, and the other with the milder phenotype who harbored a compound heterozygous mutation, c.2981-2A > G, and a novel missense mutation, p.Cys810Tyr. This is the first report on East Asian patients with MEGF10 myopathy showing two phenotypes, indicating the genotype-phenotype correlation in MEGF10 myopathy.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
authors.forename: Kazuko
authors.initials: K
authors.lastname: Takayama
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Centre, National Center of Neurology and Psychiatry, Tokyo, Japan. Electronic address: smitsuhashi@ncnp.go.jp.
authors.forename: Satomi
authors.initials: S
authors.lastname: Mitsuhashi
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
authors.forename: Je-Young
authors.initials: JY
authors.lastname: Shin
authors.affiliation: Taiyo Kodomo Clinic, Wakayama, Japan.
authors.forename: Rieko
authors.initials: R
authors.lastname: Tanaka
authors.affiliation: Shiga Medical Center for Children, Shiga, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fujii
authors.affiliation: Department of Paediatric Neurology, National Hospital Organization Utano, Hospital, Kyoto, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Tsuburaya
authors.affiliation: Department of Paediatric Neurology, National Hospital Organization Utano, Hospital, Kyoto, Japan.
authors.forename: Souichi
authors.initials: S
authors.lastname: Mukaida
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Centre, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000293:Adolescent; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D010641:Phenotype
chemical_list: C522055:MEGF10, human; D008565:Membrane Proteins
keywords: MEGF10; Myopathy; Satellite cell