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

Article Abstract:

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.

United States, Usage, Bones, Abnormalities, Enzymes, Chromosome mapping, Protein folding, Genetic disorders, Linkage (Genetics), Cartilage, Musculoskeletal abnormalities

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A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

Article Abstract:

The chondrodysplasia punctata (CDPX) is an X-linked recessive congential defect of bone and cartilage caused by an inherited deficiency of sulfatase. The symptoms include deficient bone mineralization, distal phalangeal hypoplasia and undeveloped bone cartilage. The CDPX gene is found within the genomic region of Xp22.3, and three local genes show cohomology to sulfase genes. Warfarin embryopathy which is caused by tetrogenic derivatives during pregnancy too shows the same effects as the CDPX.

Analysis, Bone diseases, Birth defects, Mutation (Biology), Mutation, Warfarin, Cartilage cells

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