title: Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
abstract: The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene is the causative gene for autosomal-recessive hereditary inclusion-body myopathy (h-IBM). Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain. This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM.
authors.affiliation: Dipartimento di Scienze Neurologiche, Centro Dino Ferrari, Università degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, Milano 20122, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Baron
authors.forename: Alessandro
authors.initials: A
authors.lastname: Prelle
authors.forename: Massimo
authors.initials: M
authors.lastname: Serafini
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Alessio Di
authors.initials: AD
authors.lastname: Fonzo
authors.forename: Marina
authors.initials: M
authors.lastname: Castagni
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
mesh_terms: D008841:Actin Cytoskeleton / Q000473:pathology; D000328:Adult; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology; D017353:Gene Deletion; D005808:Genes, Recessive / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics* / Q000502:physiology; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D004247:DNA; D017853:Phosphotransferases (Alcohol Group Acceptor); C018765:N-acylmannosamine kinase