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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.

Original publication




Journal article


Hum Mutat

Publication Date





1555 - 1568


Hurler, Hurler-Scheie, IDUA, Mucopolysaccharidosis Type I, Scheie, genotype-phenotype correlations, genotype-phenotype relationships, iduronidase, newborn screening, Alleles, Enzyme Activation, Genetic Association Studies, Genotype, Humans, Iduronidase, Mucopolysaccharidosis I, Mutation, Phenotype, Sequence Analysis, DNA, Severity of Illness Index, United Kingdom