Abstract

SANCHO, Vanessa M.; SABORIO, Manuel; DE CESPEDES, Carlos  and  AZOFEIFA, Jorge. Tamizaje de deleciones en pacientes con distrofia muscular de Duchenne (DMD) o Becker-Kiener (BMD) mediante PCR Multiplex en Costa Rica, 1998-2000. Acta pediátr. costarric [online]. 2001, vol.15, n.2, pp.78-85. ISSN 1409-0090.

Objective To introduce molecular-genetic methods to the study of dystrophinopathies in Costa Rica. Materials and methods Thirty-one male patients diagnosed with muscular dystrophy, which could be affected with a dystrophinopathy, were clinically re-examined. Twenty-three had DMD, and two BMD and six showed no clear-cut symptoms of a dystrophinopathy. DNA samples were screened by multiplex PCR for deletions in the dystrophin gene. A prenatal diagnosis was made upon request from an obligate carrier. Results Ten patients showed deletions: one has a deletion of 23 exons (3-25); two have deletions of eight exons (one 45-52, the other 12-19); another has a deletion of 7 exons (60-66); two have a deletion of 6 exons (both 45-50). The four remaining patients showed single-exon deletions: exon 52 (two patients), exon 19 and exon 44. The older son of the obligate carrier, affected with DMD, showed a deletion of 36 exons (6-42), whereas the fetus has no deletion. None of the patients with unclear diagnosis had deletions. Conclusion The overiap of symptoms observed among different muscular dystrophies, the lack of available laboratory tests and the scarcity of physicians trained in Medical Genetics, evidence the need to implement more discriminatory diagnostic methods in Costa Rica. The identification of patients with deletions allows the search for the same mutations in women at risk of being carriers and to offer them a more accurate genetic counseling.

Keywords : Duchenne; Becker-Kiener.