Gaceta medica de Mexico · 2014
[Genetic mutations and the relationship with clinical phenotype in patients with mucopolysaccharidosis type I in northeast Mexico].
Аннотация на английскомСтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Sánchez Suárez Ana Laura, Sánchez Sánchez Luz María
Аннотация
INTRODUCTION: The mutations found in the IDUA gene depend on racial and genetic background. The aim of this paper is to determine the mutations of the IDUA gene in patients with MPS I in the Northeast of Mexico and the relationship with phenotype.
RESULTS: Molecular studies were performed in seven patients from Nuevo Leon with MPS I. Five patients had Hurler-Scheie phenotype and two had Hurler phenotype. Four patients (57.1%) had the mutation p.W402X, and two patients (28.5%) had the mutation p.533R, which are both common mutations found in MPS I. Three patients had a novel mutation p.180Ser, so the relationship phenotype/genotype is unknown. Six patients (85.7%) were heterozygotes and one (14.2%) was homozygote. There was a good phenotype/genotype relationship in patients with previously described mutations and only in one patient the genotype had no correlation with the expected phenotype.
CONCLUSIONS: The most common mutation in these patients was p.W402X. The mutation p.180Ser has not been listed as a pathogenic mutation or as polymorphism in the data base of the IDUA gene. There was a good phenotype/genotype relationship.
RESULTS: Molecular studies were performed in seven patients from Nuevo Leon with MPS I. Five patients had Hurler-Scheie phenotype and two had Hurler phenotype. Four patients (57.1%) had the mutation p.W402X, and two patients (28.5%) had the mutation p.533R, which are both common mutations found in MPS I. Three patients had a novel mutation p.180Ser, so the relationship phenotype/genotype is unknown. Six patients (85.7%) were heterozygotes and one (14.2%) was homozygote. There was a good phenotype/genotype relationship in patients with previously described mutations and only in one patient the genotype had no correlation with the expected phenotype.
CONCLUSIONS: The most common mutation in these patients was p.W402X. The mutation p.180Ser has not been listed as a pathogenic mutation or as polymorphism in the data base of the IDUA gene. There was a good phenotype/genotype relationship.