Esperón ÁAA, Rosado Ruíz-Apodaca I, Santana HE, Dyce GB, Reyes NL

Language: Spanish
References: 31
Page: 14-19
PDF size: 372.66 Kb.

ABSTRACT

Usher syndrome type 2 (USH2) is a clinical entity with autosomal recessive inheritance, characterized by moderate to severe sensorineural hearing loss without vestibular alteration, and progressive visual loss due to retinitis pigmentosa. Variations in three genes can cause the disease, being the mutation c.2299delG, in the USH2A gene, the most frequent in several countries. The c.2276C>G mutation (p.C759F), also localized in USH2A, has been described in patients with non-syndromic recessive retinitis pigmentosa or with USH2. The spectrum of mutations for genes involved in Usher’s syndrome in Cuban patients has not yet been established. This study aimed to analyze the presence of mutations c.2299delG and c.2276C>G in Cuban patients with clinical suspicion of USH2. Forty unrelated individuals were studied. Molecular genetic analysis was performed using the PCR-enzymatic digestion method, followed by electrophoresis. The c.2299delG mutation was present in 7 of the 40 studied cases (17.5%); 3 were homozygous and 4 were heterozygous. The c.2276C>G mutation was not detected in any of the studied patients. The introduction of the molecular diagnosis of these mutations to the care service contributes to the improvement of genetic counseling to Cuban families where the disease is segregated. Molecular studies should be continued to identify other mutations present in genes involved in USH2 in the Cuban population.

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