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Abstract
Abstract GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of Sao Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mutation in 8 alleles; c.1622-1627insG and p.Arg59His in 2 alleles (the latter also segregating with c.1233+8T>C); and p.Phe107Leu, p.Leu173Pro, p.Arg201His, and p.Gly311Arg in 1 allele each. Two mutations (p.Ile354Ser and p.Thr384Ser) and 1 neutral alteration (p.Pro152=) are described for the first time. All patients presented as compound heterozygotes. A discussion on genotype–phenotype correlation is also presented.
Highlights
GM1 gangliosidosis (MIM# 230500) is an autosomal recessive lysosomal storage disorder caused by b-galactosidase enzyme deficiency (E.C. 3.2.1.23) which is coded by GLB1 gene and involved in the degradation of GM1 ganglioside, oligosaccharides carrying terminal b-linked galactose and glycosaminoglycans
There is an overlap with the so-called Morquio B disease, which presents a massive dysostosis multiplex with storage of keratan sulfate but without proven involvement of primary central nervous system.[2]
We report the results of a mutational screening in 9 families from Brazil with GM1 gangliosidosis
Summary
GM1 gangliosidosis (MIM# 230500) is an autosomal recessive lysosomal storage disorder caused by b-galactosidase (bGal) enzyme deficiency (E.C. 3.2.1.23) which is coded by GLB1 gene and involved in the degradation of GM1 ganglioside, oligosaccharides carrying terminal b-linked galactose and glycosaminoglycans (keratan sulfate). The disease has been classified into 3 clinical forms based on the age of onset and severity of symptoms: infantile (type I), juvenile (type II), and chronic/adult (type III). They all present with variable degrees of progressive bone dysplasia (dysostosis multiplex), visceromegaly, and neurologic deterioration with or without cherry-red spot. There is an overlap with the so-called Morquio B disease, which presents a massive dysostosis multiplex with storage of keratan sulfate but without proven involvement of primary central nervous system.[2]
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