Lysosomal Storage Disorder
Gene: ARSK
4 individuals from 2 unrelated consanguineous families reported with a homozygous missense and an NMD-predicted nonsense variant, who had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively.
A mouse model also shows a mucopolysaccharidosis phenotype, albeit milder.
Rated green (2 families, functional evidence, mouse model).
Sources: LiteratureCreated: 1 Feb 2022, 11:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: arsk has been classified as Green List (High Evidence).
Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis MONDO:0019249, ARSK-related to Mucopolysaccharidosis MONDO:0019249, ARSK-related
Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis to Mucopolysaccharidosis MONDO:0019249, ARSK-related
Gene: arsk has been classified as Green List (High Evidence).
gene: ARSK was added gene: ARSK was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSK were set to 34916232; 32856704 Phenotypes for gene: ARSK were set to Mucopolysaccharidosis Review for gene: ARSK was set to GREEN gene: ARSK was marked as current diagnostic