Definición de Subtipos del Síndrome de Usher en Población Colombiana
Palabras clave:
Síndrome de Usher, Retinitis Pigmentosa, Sordera, Hipoacusia Sensorial, Usher Syndromes, Deafness, Hearing Loss, SensorineuralResumen
ResumenIntroducción. El Síndrome de Usher (USH), de herencia autosómica recesiva, se caracteriza por sordera congénita sensorial, Retinitis Pigmentosa y disfunción vestibular. Se conocen 3 tipos clínicos y 12 subtipos genéticos. En Colombia no se conocen las frecuencias de los subtipos genéticos ni las mutaciones más frecuentes.
Objetivo. El objetivo de este trabajo fue definir el subtipo genético en 72 individuos con USH e identificar las mutaciones causantes de la enfermedad.
Métodos. Se identificaron 72 individuos con USH de diferentes ciudades del país. Se realizó análisis de haplotipos para los 12 loci asociados a USH hasta el momento y análisis mutacional de los exones con mayor frecuencia de mutaciones reportadas en los genes USH.
Resultados. Se logró definir el subtipo genético en 23 individuos y se identificó la mutación causal en 14. Se identifi caron dos mutaciones en el gen MYO7A, la p.R634X y la p.R1986X; y tres en el gen USH2A, la c.2299delG, la p.R334W, y la g.G129T.
Conclusión. Se logró identificar el subtipo genético en el 31.9% y la mutación causal en el 19.4% de la población.
Palabras clave: Síndrome de Usher, Retinitis Pigmentosa, Sordera, Hipoacusia Sensorial.
Usher Syndrome Subtypes Definition in Colombian Population AbstractIntroduction. Usher Syndrome (USH), is an autosomal recessive disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and variable vestibular areflexia. Three clinical types and 12 genetic subtypes have been described. In Colombia, frequencies of genetic subtypes and more frequent mutations are unknown.
Objective. The aim of this work was to defi ne the genetic subtype in Colombian population with USH.
Methods. 72 individuals with USH were selected from different cities around the country. Haplotype analysis was performed to identify segregation to any of the 12 known USH loci. Mutational analysis of some exons was performed in USH genes.
Results. Genetic subtype of 23 individuals and pathological mutation in 14 were identified. Two mutations were identifi ed in MYO7A gene, p.R634X and p.R1986X; and three in the USH2A gene, c.2299delG, p.R334W, and g.G129T.
Conclusion. Genetic subtype was identified in 31.9% of the population and pathologic mutation in 19.4%.
Key words: Usher Syndromes, Retinitis Pigmentosa, Deafness, Hearing Loss, Sensorineural.
Biografía del autor/a
Greizy López Leal, Instituto de Genética Humana
Nancy Gelvez Moyano, Instituto de Genética Humana
Marta L. Tamayo, Instituto de Genética Humana
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