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IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

Bertola, Francesca, Filocamo, Mirella, Casati, Giorgio, Mort, Matthew Edwin, Rosano, Camillo, Tylki-Szymanska, Anna, Tüysüz, Beyhan, Gabrielli, Orazio, Grossi, Serena, Scarpa, Maurizio, Parenti, Giancarlo, Antuzzi, Daniela, Dalmau, Jaime, Rocco, Maja Di, Vici, Carlo Dionisi, Okur, Ilyas, Rosell, Jordi, Rovelli, Attilio, Furlan, Francesca, Rigoldi, Miriam, Biondi, Andrea, Cooper, David Neil and Parini, Rossella 2011. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Human Mutation 32 (6) , E2189-E2210. 10.1002/humu.21479

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Abstract

Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopolysaccharidosis type I. A total of 54 distinct mutant IDUA alleles were identified, 34 of which were novel including 12 missense mutations, 2 nonsense mutations, 12 splicing mutations, 5 micro-deletions, 1 micro-duplication 1 translational initiation site mutation, and 1 ‘no-stop’ change (p.X654RextX62). Evidence for the pathological significance of all novel mutations identified was sought by means of a range of methodological approaches, including the assessment of evolutionary conservation, RT-PCR/in vitro splicing analysis, MutPred analysis and visual inspection of the 3D-model of the IDUA protein. Taken together, these data not only demonstrate the remarkable mutational heterogeneity characterizing type 1 mucopolysaccharidosis but also illustrate our increasing ability to make deductions pertaining to the genotype-phenotype relationship in disorders manifesting a high degree of allelic heterogeneity.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RB Pathology
Uncontrolled Keywords: IDUA ; Mucoplysaccharidosis type I ; Hurler disease ; Genotype-phenotype analysis ; Molecular modelling ; MutPred analysis ; In vitro splicing analysis
Additional Information: Mutation in Brief
Publisher: Wiley Blackwell
ISSN: 1059-7794
Last Modified: 07 Apr 2019 00:19
URI: http://orca-mwe.cf.ac.uk/id/eprint/22843

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