Idioma:

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Clarke, Lorne A. ; Giugliani, Roberto ; Guffon, Nathalie ; Jones, Simon A. ; Keenan, Hillary A. ; Munoz‐Rojas, Maria V. ; Okuyama, Torayuki ; Viskochil, David ; Whitley, Chester B. ; Wijburg, Frits A. ; Muenzer, Joseph

Clinical genetics, 2019-10, Vol.96 (4), p.281-289 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por

Enviar para

Título:
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Autor: Clarke, Lorne A. ; Giugliani, Roberto ; Guffon, Nathalie ; Jones, Simon A. ; Keenan, Hillary A. ; Munoz‐Rojas, Maria V. ; Okuyama, Torayuki ; Viskochil, David ; Whitley, Chester B. ; Wijburg, Frits A. ; Muenzer, Joseph
Assuntos: Adolescent ; Adult ; Alleles ; Child ; Child, Preschool ; Female ; Genetic Association Studies - methods ; Genetic Predisposition to Disease ; Genotype ; Genotype & phenotype ; Genotypes ; Global Health ; Hereditary diseases ; High-Throughput Nucleotide Sequencing ; Humans ; hurler syndrome ; iduronidase ; Iduronidase - genetics ; Infant ; Infant, Newborn ; lysosomal storage disease ; lysosome ; Male ; Medical screening ; metabolic disease ; Middle Aged ; Mucopolysaccharidosis ; Mucopolysaccharidosis I - diagnosis ; Mucopolysaccharidosis I - epidemiology ; Mucopolysaccharidosis I - genetics ; Mutation ; Original ; Phenotype ; Phenotypes ; Registries ; Scheie syndrome ; Severity of Illness Index ; Young Adult
É parte de: Clinical genetics, 2019-10, Vol.96 (4), p.281-289
Notas: Funding information
Sanofi Genzyme
https://publons.com/publon/10.1111/cge.13583/
Peer Review
The peer review history for this article is available at
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Peer Review The peer review history for this article is available at https://publons.com/publon/10.1111/cge.13583/
Funding information Sanofi Genzyme
Descrição: Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the α‐L‐iduronidase (IDUA) gene. Clinical phenotypes range from severe (Hurler syndrome) to attenuated (Hurler‐Scheie and Scheie syndromes) and vary in age of onset, severity, and rate of progression. Defining the phenotype at diagnosis is essential for disease management. To date, no systematic analysis of genotype‐phenotype correlation in large MPS I cohorts have been performed. Understanding genotype‐phenotype is critical now that newborn screening for MPS I is being implemented. Data from 538 patients from the MPS I Registry (380 severe, 158 attenuated) who had 2 IDUA alleles identified were examined. In the 1076 alleles identified, 148 pathogenic variants were reported; of those, 75 were unique. Of the 538 genotypes, 147 (27%) were unique; 40% of patients with attenuated and 22% of patients with severe MPS I had unique genotypes. About 67.6% of severe patients had genotypes where both variants identified are predicted to severely disrupt protein/gene function and 96.1% of attenuated patients had at least one missense or intronic variant. This dataset illustrates a close genotype/phenotype correlation in MPS I but the presence of unique IDUA missense variants remains a challenge for disease prediction. Mucopolysaccharidosis type I patient's variants and genotypes.
Editor: Oxford, UK: Blackwell Publishing Ltd
Idioma: Inglês

Links

View this record in MEDLINE/PubMed

Voltar para lista de resultados

Anterior Resultado 2 Avançar Ir para próxima página

Realização: Logos de Redes Sociais:

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Clarke, Lorne A. ; Giugliani, Roberto ; Guffon, Nathalie ; Jones, Simon A. ; Keenan, Hillary A. ; Munoz‐Rojas, Maria V. ; Okuyama, Torayuki ; Viskochil, David ; Whitley, Chester B. ; Wijburg, Frits A. ; Muenzer, Joseph

Oxford, UK: Blackwell Publishing Ltd

Buscando em bases de dados remotas. Favor aguardar.