Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

ABSTRACT: Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive disorder caused by the deficit of the arylsulfatase B (ARSB) enzyme, which leads to dermatan sulfate pathological storage, resulting in a wide spectrum of clinical phenotypes. To date more than 130 different mutations were reported, most of them being restricted to individual families. We here report the first study on the ARSB gene mutations in MPS VI patients of Turkish ethnogeographic origin. On the whole we analyzed 13 unrelated families recruited from 3 different Turkish clinical centers, for a total of 52 subjects, including patients, parents, and siblings. The molecular characterization of ARSB gene in these subjects lead to the identification of eight different mutations (6 missense mutations

SUBMITTER: Zanetti A 

PROVIDER: S-EPMC4213335 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature