Human mutation · 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.
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Bertola Francesca, Filocamo Mirella, Casati Giorgio, Mort Matthew, Rosano Camillo, Tylki-Szymanska Anna, Tüysüz Beyhan, Gabrielli Orazio, Grossi Serena, Scarpa Maurizio, Parenti Giancarlo, Antuzzi Daniela, Dalmau Jaime, Di Rocco Maja, Dionisi Vici Carlo, Okur Ilyas, Rosell Jordi, Rovelli Attilio, Furlan Francesca, Rigoldi Miriam, Biondi Andrea, Cooper David N, Parini Rossella
Аннотация
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.