Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.

[gm1 gangliosidosis]

GM 1 gangliosidosis is a lysosomal disorder caused by β-galactosidase deficiency due to mutations in the GLB 1 gene . It is a rare neurodegenerative disorder with an incidence of about 1 :100 ,000 -1 :200 ,000 live births worldwide . Here we review GLB 1 mutations and clinical features from 65 Brazilian GM 1 gangliosidosis patients . Molecular analysis showed 17 different mutations and c .1622 -1627 insG 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 -1627 insG (p =0 .03 ). Overall our findings differ from literature and represent the exclusive genotypic profile found in Brazilian GM 1 gangliosidosis patients .

Diseases
Validation

Diseases presenting "first year" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aniridia

benign recurrent intrahepatic cholestasis

child syndrome

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erythropoietic protoporphyria

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lymphangioleiomyomatosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

phenylketonuria

pleomorphic liposarcoma

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

waldenström macroglobulinemia

wolf-hirschhorn syndrome

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