Mutation analysis in South American patients with Mucopolysaccharidosis type I

Mostrar todas las versiones(2)

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to the deficiency of-L-iduronidase (IDUA). Severely affected patients show coarse faces, hepatosplenomegaly and mental retardation. Mild cases have facial features, joint stiffness, short stature but no CNS involvement. The gen...

Descripción completa

Detalles Bibliográficos
Autores principales: Matte, Ursula, Leistner, Sandra, Schwartz, Ida, Lima, Luciane, Chamoles, Néstor, Yogalingam, Gouri, Brooks, Doug, Hopwood, John, Giugliani, Roberto
Formato: Articulo
Lenguaje:Inglés
Publicado: 2001
Materias:
Ciencias Naturales
Antropología
Mucopolisacaridosis I
Mutación
América del Sur
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/5648
http://www.fcnym.unlp.edu.ar/aabra/3-2-2001/Matte%20et%20al..pdf
http://suquia.ffyh.unc.edu.ar/handle/suquia/10894
Aporte de:
Suquía - Instituto de Antropología de Córdoba (IDACOR, CONICET y UNC) de Universidad Nacional de Córdoba
id I10-R181-suquia-10894
record_format dspace
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-181
collection Suquía - Instituto de Antropología de Córdoba (IDACOR, CONICET y UNC)
language Inglés
topic Ciencias Naturales
Antropología
Mucopolisacaridosis I
Mutación
América del Sur
spellingShingle Ciencias Naturales
Antropología
Mucopolisacaridosis I
Mutación
América del Sur
Matte, Ursula
Leistner, Sandra
Schwartz, Ida
Lima, Luciane
Chamoles, Néstor
Yogalingam, Gouri
Brooks, Doug
Hopwood, John
Giugliani, Roberto
Mutation analysis in South American patients with Mucopolysaccharidosis type I
topic_facet Ciencias Naturales
Antropología
Mucopolisacaridosis I
Mutación
América del Sur
description Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to the deficiency of-L-iduronidase (IDUA). Severely affected patients show coarse faces, hepatosplenomegaly and mental retardation. Mild cases have facial features, joint stiffness, short stature but no CNS involvement. The gene encoding IDUA was cloned in 1990 and more than 55 disease-causing mutations have been described so far. Mutation frequency varies worldwide but W402X is the most frequent mutation found in European patients. A group of 56 MPS I patients, 25 from Argentina and 31 from Brazil, were genotyped. By analyzing ten recurrent mutations we were able to define 76% of the Argentinean alleles and 60% of the genotypes. For the Brazilian group, 62% of the alleles and 45% of the genotypes were assigned by the analysis of these same ten mutations. Sequencing of Brazilian patients led to the discovery of 13 new mutations and 4 new ones were found in Argentineans. The two most frequent mutations in both populations were W402X and P533R. The number of alleles bearing private mutations in Argentinean patients was 3 out of 50 and among the Brazilians, 16 out of 58. Such genetic heterogeneity is a concern when analyzing patients from miscigenated populations, such as South American countries.
format Articulo
Articulo
author Matte, Ursula
Leistner, Sandra
Schwartz, Ida
Lima, Luciane
Chamoles, Néstor
Yogalingam, Gouri
Brooks, Doug
Hopwood, John
Giugliani, Roberto
author_facet Matte, Ursula
Leistner, Sandra
Schwartz, Ida
Lima, Luciane
Chamoles, Néstor
Yogalingam, Gouri
Brooks, Doug
Hopwood, John
Giugliani, Roberto
author_sort Matte, Ursula
title Mutation analysis in South American patients with Mucopolysaccharidosis type I
title_short Mutation analysis in South American patients with Mucopolysaccharidosis type I
title_full Mutation analysis in South American patients with Mucopolysaccharidosis type I
title_fullStr Mutation analysis in South American patients with Mucopolysaccharidosis type I
title_full_unstemmed Mutation analysis in South American patients with Mucopolysaccharidosis type I
title_sort mutation analysis in south american patients with mucopolysaccharidosis type i
publishDate 2001
url http://sedici.unlp.edu.ar/handle/10915/5648
http://www.fcnym.unlp.edu.ar/aabra/3-2-2001/Matte%20et%20al..pdf
http://suquia.ffyh.unc.edu.ar/handle/suquia/10894
work_keys_str_mv AT matteursula mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
AT leistnersandra mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
AT schwartzida mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
AT limaluciane mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
AT chamolesnestor mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
AT yogalingamgouri mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
AT brooksdoug mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
AT hopwoodjohn mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
AT giuglianiroberto mutationanalysisinsouthamericanpatientswithmucopolysaccharidosistypei
bdutipo_str Repositorios
_version_ 1764820397710114820

Ejemplares similares