Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

X-linked chondrodysplasia punctata (CDPX) is a disorder characterized by abnormalities in bone and cartilage development. Recently mutations that lead to amino acid substitutions have been identified in patients with CDPX. The mutations are in the coding region of the arylsulfatase E (ARSE) gene and the protein product is a 60-kD precursor subject to N-glycosylation to give a mature 68-kD form localized in Golgi apparatus, unlike any other sulfatases. Five missense were mutations found in CDPX patients. They were introduced into wild-type ARSE cDNA and the effect on the ARSE protein of substitutions was studied. The mutations are involved in the clinical phenotype.