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Gene. 2013 Jan 1;512(1):113-6. doi: 10.1016/j.gene.2012.09.106. Epub 2012 Oct 6.

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.

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  • 1Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

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.

Copyright © 2012 Elsevier B.V. All rights reserved.

PMID:
23046582
[PubMed - indexed for MEDLINE]
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