title: Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
abstract: GM1 gangliosidosis is a lysosomal disorder caused by β-galactosidase deficiency due to mutations in the GLB1 gene. It is a rare neurodegenerative disorder with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we review GLB1 mutations and clinical features from 65 Brazilian GM1 gangliosidosis patients. Molecular analysis showed 17 different mutations and c.1622-1627insG was the most frequent, accounting for 50% of the alleles. Cognitive impairment was the main clinical sign, observed in 82% of patients, followed by hepatosplenomegaly observed in 56% of patients. It was possible to establish a significant correlation between age at onset of symptoms preceding the first year of life and the presence of the mutation c.1622-1627insG (p=0.03). Overall our findings differ from literature and represent the exclusive genotypic profile found in Brazilian GM1 gangliosidosis patients.
authors.affiliation: Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Sperb
authors.forename: Filippo
authors.initials: F
authors.lastname: Vairo
authors.forename: Maira
authors.initials: M
authors.lastname: Burin
authors.forename: Fabiana Quoos
authors.initials: FQ
authors.lastname: Mayer
authors.forename: Ursula
authors.initials: U
authors.lastname: Matte
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000483:Alleles; D001938:Brazil / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D016537:Gangliosidosis, GM1 / Q000175:diagnosis* / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D001616:beta-Galactosidase / Q000235:genetics*
chemical_list: D001616:beta-Galactosidase