Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

ABSTRACT:

Background

Beta-galactosidase-1 (GLB1) is a lysosomal hydrolase that is responsible for breaking down specific glycoconjugates, particularly GM1 (monosialotetrahexosylganglioside). Pathogenic variants in GLB1 cause two different lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB. In GM1 gangliosidosis, decreased β-galactosidase-1 enzymatic activity leads to the accumulation of GM1 gangliosides, predominantly within the CNS. We present a 22-month-old proband with GM1 gangliosidosis type II (late-infantile form) in whom a novel homozygous in-frame deletion (c.1468_1470delAAC, p.Asn490del) in GLB1 was detected.

Methods

We used an experimental protein structure of β-galactosidase-1 to generate a model of the p.Asn490del mutant and performed molecu

SUBMITTER: Richter JE 

PROVIDER: S-EPMC6305665 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature