Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Acosta MA Author

Acosta@gmail.com

Subjects of specialization
Maroteaux-Lamy syndrome

Affiliation
Pathology Department, University of Santiago de Compostela School of Medicine, Galicia, Spain: R

Biography

Mr. Acosta MA, belongs to the department of Paediatrics, interest in the field of Maroteaux-Lamy syndrome; Mucopolysaccharidosis VI; Novel mutation; Ancestral allel, from University of Santiago de Compostela School of Medicine, Galicia, Spain: Rúa San Francisco s/n 15782, Spain

Publications

Case Report Open Access

Identification of a Novel Mutation in the Human ARSB Gene on Chromosome 5q14.1 for Autosomal Recessive Mucopolysaccharidosis Type VI Patients in Southwest Colombia

Author(s):

Acosta MA, Lago RM,Barros F,Carracedo AM

Mucopolysaccharidosis VI is a rare lysosomal storage hereditary disease, caused by arylsulfatase B enzyme deficiency which leads to the accumulation of harmful amounts of dermatan sulfate. [1] Methods: A total of 32 MPS VI patients were identified in Colombia, sixteen (45 %) in the Department of Cauca, identified clinically and by enzymatic assay. Two of these individuals belong to the Guambiano Amerindian reservation. DNA extraction and sequencing for the region of the arylsulfatase B by ABI PRISM® 3100 Genetic Analyzer was performed for these two index cases and 22 of their relatives. A principal component analysis of the genetic haplotypes was also performed. Results: We found a novel sing... view more»

DOI: 10.4172/2327-5790.1000151

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