Unknown

Dataset Information

0

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

ABSTRACT: 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%.

SUBMITTER: Amartino H 

PROVIDER: S-EPMC5121352 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Amartino H H   Ceci R R   Masllorens F F   Gal A A   Arberas C C   Bay L L   Ilari R R   Dipierri J J   Specola N N   Cabrera A A   Rozenfeld P P  

Molecular genetics and metabolism reports 20140917

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human <i>IDS</i> 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%. ...[more]

Similar Datasets

Unknown Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).
| S-EPMC5693349 | biostudies-literature
Unknown Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
| S-EPMC6982257 | biostudies-literature
Unknown Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
| S-EPMC1762941 | biostudies-other
Unknown Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
| S-EPMC3143973 | biostudies-literature
Unknown A rare case of mucopolysaccharidosis: hunter syndrome.
| S-EPMC4437174 | biostudies-literature
Unknown Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
| S-EPMC6498611 | biostudies-literature
Unknown The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life.
| S-EPMC3722040 | biostudies-literature
Unknown CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).
| S-EPMC5033872 | biostudies-literature
Unknown Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).
| S-EPMC3614543 | biostudies-literature
Unknown Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
| S-EPMC5574592 | biostudies-literature