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 from 40 families...

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Autores principales: Amartino, H., Ceci, R., Masllorens, F., Gal, A., Arberas, C., Bay, L., Ilari, R., Dipierri, J., Specola, N., Cabrera, A., Rozenfeld, P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121352/
https://www.ncbi.nlm.nih.gov/pubmed/27896113
http://dx.doi.org/10.1016/j.ymgmr.2014.08.006
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author Amartino, H.
Ceci, R.
Masllorens, F.
Gal, A.
Arberas, C.
Bay, L.
Ilari, R.
Dipierri, J.
Specola, N.
Cabrera, A.
Rozenfeld, P.
author_facet Amartino, H.
Ceci, R.
Masllorens, F.
Gal, A.
Arberas, C.
Bay, L.
Ilari, R.
Dipierri, J.
Specola, N.
Cabrera, A.
Rozenfeld, P.
author_sort Amartino, H.
collection PubMed
description 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 from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%.
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spelling pubmed-51213522016-11-28 Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome) Amartino, H. Ceci, R. Masllorens, F. Gal, A. Arberas, C. Bay, L. Ilari, R. Dipierri, J. Specola, N. Cabrera, A. Rozenfeld, P. Mol Genet Metab Rep Short Communication 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 from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%. Elsevier 2014-09-17 /pmc/articles/PMC5121352/ /pubmed/27896113 http://dx.doi.org/10.1016/j.ymgmr.2014.08.006 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Short Communication
Amartino, H.
Ceci, R.
Masllorens, F.
Gal, A.
Arberas, C.
Bay, L.
Ilari, R.
Dipierri, J.
Specola, N.
Cabrera, A.
Rozenfeld, P.
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_full Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_fullStr Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_full_unstemmed Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_short Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
title_sort identification of 17 novel mutations in 40 argentinean unrelated families with mucopolysaccharidosis type ii (hunter syndrome)
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121352/
https://www.ncbi.nlm.nih.gov/pubmed/27896113
http://dx.doi.org/10.1016/j.ymgmr.2014.08.006
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