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IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh, Arunabha; Mercer, Jean; Mackinnon, Sabrina; Yue, Wyatt W; Church, Heather; Beesley, Clare E; Broomfield, Alex; Jones, Simon A; Tylee, Karen.
Afiliação
  • Ghosh A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Mercer J; School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Mackinnon S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Yue WW; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, London, UK.
  • Church H; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, London, UK.
  • Beesley CE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Broomfield A; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Jones SA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Tylee K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
Hum Mutat ; 38(11): 1555-1568, 2017 11.
Article em En | MEDLINE | ID: mdl-28752568
Mucopolysaccharidosis Type I (MPS I) is a lysosomal storage disorder with varying degrees of phenotypic severity caused by mutations in IDUA. Over 200 disease-causing variants in IDUA have been reported. We describe the profile of disease-causing variants in 291 individuals with MPS I for whom IDUA sequencing was performed, focusing on the UK subset of the cohort. A total of 63 variants were identified, of which 20 were novel, and the functional significance of the novel variants is explored. The severe form of MPS I is treated with hematopoietic stem cell transplantation, known to have improved outcomes with earlier age at treatment. Developing genotype-phenotype relationships would therefore have considerable clinical utility, especially in the light of the development of newborn screening programs for MPS I. Associations between genotype and phenotype are examined in this cohort, particularly in the context of the profile of variants identified in UK individuals. Relevant associations can be made for the majority of UK individuals based on the presence of nonsense or truncating variants as well as other associations described in this report.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucopolissacaridose I / Estudos de Associação Genética / Iduronidase / Mutação Tipo de estudo: Prognostic_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucopolissacaridose I / Estudos de Associação Genética / Iduronidase / Mutação Tipo de estudo: Prognostic_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article