ARSK mutations cause a novel MPS subtype (mucopolysaccharidosis)
A new study published in Journal of Medical Genetics identified 2 bi-allelic variants in ARSK, a gene coding for a lysosomal hydrolase involved in GAG degradation (glycosaminoglycans). Four individuals (from 2 unrelated consanguineous families) express MPS features (mucopolysaccharidosis), such as short stature, coarse facial features and dysostosis multiplex. Other features are not ubiquitous. Clinical and molecular characterisation (biochemistry, electrophoresis, liquid chromatography/mass spectrometry, cells lab) reveal a novel MPS subtype.
- J Med Genet . 2022 Oct;59(10):957-964