Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. It is caused by biallelic loss-of-function variants in IDUA, encoding alpha-l iduronidase. Here, we describe an individual affected by MPS I due to a paternally inherited deletion of IDUA exons 1 an...

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Detalles Bibliográficos
Autores principales: Breen, Catherine, Mercer, Jean, Jones, Simon A, Jahic, Amir, Heptinstall, Lesley, Tylee, Karen, Newman, William G, Beetz, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052355/
https://www.ncbi.nlm.nih.gov/pubmed/27766162
http://dx.doi.org/10.1038/hgv.2016.31
Descripción
Sumario:Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. It is caused by biallelic loss-of-function variants in IDUA, encoding alpha-l iduronidase. Here, we describe an individual affected by MPS I due to a paternally inherited deletion of IDUA exons 1 and 2, c.(?_-88)_(299+1_300-1)del and a whole-gene deletion of IDUA (?_-88?)_(*136?)del secondary to maternal somatic mosaicism. We define a previously unreported mutational mechanism for this disorder.

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