title: Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.
abstract: Pompe disease or glycogen-storage disease type 2 (GSD2, OMIM 232300) is an autosomal recessive disorder caused by mutations in the acid alpha-glucosidase gene. Late-onset GSD2 resembles some limb-girdle and Becker muscular dystrophies. The screening of GSD2 through the measurement of acid alpha-glucosidase activity in dried blood spots was applied to a selected sample of 5 Mexican patients with proximal myopathies of unknown etiology. Only 1 male patient showed a low level of acid alpha-glucosidase activity and a compound heterozygote genotype for the c.-32-13T>G splicing mutation present in most white late-onset Pompe disease cases and the novel mutation p.C558S. To our knowledge, this is the first report of a Mexican patient with late-onset GSD2. The identification of c.-32-13T>G in our patient could reflect the genetic contribution of European ancestry to the Mexican population. The enzymatic screening of GSD2 could be justified in patients with myopathies of unknown etiology.
authors.affiliation: Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, México. malcantaraortigoza@gmail.com
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Alcántara-Ortigoza
authors.forename: Ariadna
authors.initials: A
authors.lastname: González-del Angel
authors.forename: Rehotbevely
authors.initials: R
authors.lastname: Barrientos-Ríos
authors.forename: Courtney
authors.initials: C
authors.lastname: Cupples
authors.forename: Luis Martín
authors.initials: LM
authors.lastname: Garrido-García
authors.forename: Beatríz
authors.initials: B
authors.lastname: de León-Bojorge
authors.forename: Adriana del Carmen
authors.initials: Adel C
authors.lastname: Alva-Chaire
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006009:Glycogen Storage Disease Type II / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008800:Mexico / Q000208:ethnology; D009135:Muscular Diseases / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D044465:White People / Q000208:ethnology / Q000235:genetics; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases