title: Maternal mosaicism forIDUAdeletion clarifies recurrence risk in MPS I.
abstract: Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. It is caused by biallelic loss-of-function variants inIDUA,encoding alpha-l iduronidase. Here, we describe an individual affected by MPS I due to a paternally inherited deletion ofIDUAexons 1 and 2, c.(?_-88)_(299+1_300-1)del and a whole-gene deletion ofIDUA(?_-88?)_(*136?)del secondary to maternal somatic mosaicism. We define a previously unreported mutational mechanism for this disorder.
authors.affiliation: Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Breen
authors.affiliation: Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
authors.forename: Jean
authors.initials: J
authors.lastname: Mercer
authors.affiliation: Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
authors.forename: Simon A
authors.initials: SA
authors.lastname: Jones
authors.affiliation: Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany.
authors.forename: Amir
authors.initials: A
authors.lastname: Jahic
authors.affiliation: Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
authors.forename: Lesley
authors.initials: L
authors.lastname: Heptinstall
authors.affiliation: Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
authors.forename: Karen
authors.initials: K
authors.lastname: Tylee
authors.affiliation: Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
authors.affiliation: Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany.
authors.forename: Christian
authors.identifier: 0000-0001-7061-2895
authors.initials: C
authors.lastname: Beetz