Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.

ABSTRACT: Sialidosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the NEU1 gene, resulting in deficient neuraminidase-1 activity and the subsequent accumulation of sialylated compounds in lysosomes. This review comprehensively analyzes the genetic and clinical heterogeneity associated with sialidosis, emphasizing the distinction between the milder type I form and the more severe type II form. Over 90 pathogenic NEU1 variants, predominantly missense mutations, have been identified, highlighting significant phenotypic diversity. Advancements in genomic sequencing technologies have facilitated the identification of known and novel mutations, with population-specific insights elucidating ethnic variability in symptomatology and genetic profiles. Recent ca

SUBMITTER: Peng ML 

PROVIDER: S-EPMC11855786 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature