Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from40 families...

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Detalles Bibliográficos
Autores principales: Amartino, H., Ceci, Romina, Masllorens, F., Gal, A., Arberas, C., Bay, L., Ilari, R., Dipierri, J., Specola, N., Cabrera, A., Rozenfeld, P.
Formato: Articulo
Lenguaje:Inglés
Publicado: 2014
Materias:
Ciencias Exactas
Genetic testing
Genotype-phenotype correlation
Hunter syndrome
Lysosomal storage disorder
Mucopolysaccharidosis type II
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/85217
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
Descripción
Sumario:Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from40 families of Argentina. Thirty different alleles have been identified, and 57%were novel. The frequency of de novomutationswas 10%. Overall, the percentage of private mutations in our series was 75%.

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