Resumo

ROJAS-ARAYA, Melissa et al. Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa Rica. Rev. biol. trop [online]. 2009, vol.57, suppl.1, pp.381-387. ISSN 0034-7744.

Frecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica. The Charcot-Marie-Tooth disease constitutes is among the most frequent hereditary peripheral neuropathies world-wide. We identified a family from Palmares (Alajuela, Costa Rica) with 18 affected members. Their neuropathy is axonal, with an autosomal recessive pattern of inheritance; the responsible gene is at the 19q13.33 chromosomal region. Later the mutation was identified in gene MED25. We studied the frequency and geographic distribution of the mutant allele. In a random sample of 103 individuals, six were heterozygote and were widely distributed in Palmares. There was no person in homozigote state for the mutant allele. Clinical characteristics do not differ significantly between individuals that are homozygous for the wildtype allele and individuals hetero zygous for the mutation. A 5.83 % of the population is heterozygote and the frequency of the Ala335Val allele is 0.029, six times higher than in a sample of the Costa Rican population. Werecommend a molecular analysis of carriers to detect additional cases in the region. Rev. Biol. Trop. 57 (Suppl.1): 381-387. Epub 2009 November 30.

Palavras-chave : Charcot-Marie-Tooth disease; CMT; HMSN; CMT2B2; Allelic frequency; Costa Rica.

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