Acosta ST, Arceo ÁM, Collazo MT, Rodríguez ML, Martínez RL, Hernández PY, Larrinaga, LE, Marín PL, Esperón ÁA

Language: Spanish
References: 21
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ABSTRACT

Mucopolysaccharide type I is a genetic disease of lysosomal storage with an autosomal recessive mode of inheritance. Hurler syndrome (MPS IH) is the most severe form of presentation. The molecular cause is the deficiency in the activity of the enzyme alpha L-iduronidase because of mutations in the IDUA gene. The main international databases on monogenic diseases describe more than 160 mutations and about 30 polymorphisms. The one that has been most frequently identified in Europe and America is c.1205G>A; p.W402X. In Cuba, no molecular studies have been carried out. Objectives: To introduce a PCR technique with enzymatic digestion for the detection of the p.W402X mutation and molecularly characterize patients diagnosed with Hurler's syndrome between 2008 and 2018. Methods: DNA obtained from dried blood spot was used. PCR was standardized with enzymatic digestion as a result of modifications made to the method described by Scott and colleagues in 1992. Five families with one member affected with MPS IH were studied. Results: All patients with MPS IH were found to be homozygous for W402X and with very low iduronidasa activities in leukocytes. Conclusions: The W402X mutation must be the most frequent within the mutational spectrum of the IDUA gene responsible for Hurler's syndrome in Cuba. Therefore, the molecular biology technique introduced should be very effective for the molecular diagnosis of this entity in the country.

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