Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

ABSTRACT:

Purpose

Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups. We collected, analyzed and uniformly summarized all published IDS gene variants reported in literature up to June 2023, here providing the first worldwide review and classification.

Methods

Data was obtained from a literature search, conducted in PubMed and Google. All data was analyzed to define the most common alleles, geographic distribution and genotype-phenotype correlation. Moreover, point variants were classified according to their pathogenicity, based on the ACMG guidelines.

Results

Several types of variants have b

SUBMITTER: Zanetti A 

PROVIDER: S-EPMC11610362 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature