title: 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 humanIDSgene 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%.
authors.affiliation: Hospital Universitario Austral, Pilar, Argentina.
authors.forename: H
authors.initials: H
authors.lastname: Amartino
authors.affiliation: IIFP, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas, Universidad Nacional de La Plata y CONICET, Argentina.
authors.forename: R
authors.initials: R
authors.lastname: Ceci
authors.affiliation: Hospital Posadas, Buenos Aires, Argentina.
authors.forename: F
authors.initials: F
authors.lastname: Masllorens
authors.affiliation: UKE, Hamburgo, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.affiliation: Hospital de Niños Dr Ricardo Gutierrez, Buenos Aires, Argentina.
authors.forename: C
authors.initials: C
authors.lastname: Arberas
authors.affiliation: Hospital Garrahan, Buenos Aires, Argentina.
authors.forename: L
authors.initials: L
authors.lastname: Bay
authors.affiliation: Policlínico Bancario, Buenos Aires, Argentina.
authors.forename: R
authors.initials: R
authors.lastname: Ilari
authors.affiliation: Universidad Nacional de Jujuy, Argentina.
authors.forename: J
authors.initials: J
authors.lastname: Dipierri
authors.affiliation: Hospital de Niños Sor María Ludovica, La Plata, Argentina.
authors.forename: N
authors.initials: N
authors.lastname: Specola
authors.affiliation: Hospital de Niños VJ Vilela, Rosario, Argentina.
authors.forename: A
authors.initials: A
authors.lastname: Cabrera
authors.affiliation: IIFP, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas, Universidad Nacional de La Plata y CONICET, Argentina.
authors.forename: P
authors.initials: P
authors.lastname: Rozenfeld
keywords: Genetic testing; Genotype–phenotype correlation; Hunter syndrome; Lysosomal storage disorder; Mucopolysaccharidosis type II