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Un gen del dominio de la bifurcación está mutado en un trastorno grave del habla y el lenguaje
C S Lai1, S E Fisher, J A Hurst
1Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
Nature
|October 5, 2001
Resumen
Una rara mutación genética en el gen FOXP2 causa trastornos del desarrollo del habla y del lenguaje. Este hallazgo identifica un gen clave involucrado en la compleja base genética del desarrollo del habla y el lenguaje.
Área de la Ciencia:
- Genética La genética.
- La neurociencia es la neurociencia.
- Biología del desarrollo Biología del desarrollo.
Sus antecedentes:
- Los trastornos del habla y del lenguaje en el desarrollo afectan la adquisición del lenguaje a pesar de la inteligencia y la oportunidad normales.
- Los factores genéticos están implicados, pero los patrones de herencia son complejos y los genes causantes siguen siendo escurridizos.
- Una familia única de tres generaciones (KE) exhibe un trastorno grave del habla y el lenguaje como un rasgo monogénico autosómico dominante.
Objetivo del estudio:
- Identificar el gen específico responsable del trastorno del habla y el lenguaje en la familia KE y un individuo no relacionado (CS).
- Investigar el papel del gen FOXP2 en el desarrollo del habla y el lenguaje.
Principales métodos:
- Análisis de enlace genético para mapear el locus responsable (SPCH1) en el cromosoma 7q31.1.
- Análisis de una translocación cromosómica en CS individuales que afectan el intervalo SPCH1.
- Identificación y secuenciación del gen FOXP2 en individuos afectados y controles.
Principales resultados:
- Se descubrió que el gen FOXP2, que codifica un factor de transcripción, estaba interrumpido por el punto de ruptura de la translocación en individuos de CS.
- Se identificó una mutación puntual que altera un aminoácido invariante en el dominio forkhead de FOXP2 en miembros afectados de la familia KE.
- Estas alteraciones genéticas proporcionan una fuerte evidencia del papel de FOXP2 en el habla y el lenguaje.
Conclusiones:
- El gen FOXP2 está directamente implicado en los procesos de desarrollo subyacentes al habla y el lenguaje humanos.
- Las mutaciones en FOXP2 pueden conducir a graves trastornos del habla y del lenguaje en el desarrollo.
- Este estudio identifica a FOXP2 como un gen crítico para el habla y el lenguaje.
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