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La secuenciación clínica del exoma como una herramienta de diagnóstico clave: una variante rara de novo en gemelos
Hicham Bouchahta1,2, Maryem Sahli2, Nada Amllal3
1Microbiology and Molecular Biology Team, Center of Plant and Microbial Biotechnology, Biodiversity and Environment, Faculty of Sciences, Mohammed V University in Rabat, Rabat, Morocco.
Molecular syndromology
|February 9, 2026
Resumen
Se investigaron los trastornos del desarrollo neurológico asociados con TRIO en gemelos dizigóticos. La secuenciación clínica del exoma identificó una variante patógena del gen TRIO, lo que sugiere un posible evento de mosaico en los padres de estas condiciones genéticas raras.
Área de la Ciencia:
- Genética La genética.
- La neurociencia es la neurociencia.
- Biología del desarrollo Biología del desarrollo.
Sus antecedentes:
- Los trastornos del desarrollo neurológico asociados a TRIO son condiciones genéticas raras.
- Las variantes patógenas en el gen TRIO están vinculadas al desarrollo neuronal y a menudo exhiben herencia autosómica dominante.
- Las ocurrencias de novo en gemelos dizigóticos son poco frecuentes y no se comprenden bien.
Objetivo del estudio:
- Para investigar la base genética de los trastornos del desarrollo neurológico en gemelos dizigóticos.
- Para identificar variantes patógenas en el gen TRIO asociado con condiciones raras de neurodesarrollo.
- Explorar posibles patrones de herencia, incluido el mosaicismo, en casos familiares.
Principales métodos:
- Se realizó la secuenciación clínica del exoma (CES) en hermanas gemelas dizigóticas que presentaban retraso en el desarrollo neurológico, discapacidad intelectual, problemas de comportamiento y microcefalia.
- El análisis de segregación utilizando secuenciación de Sanger se empleó para examinar el patrón de herencia en los padres.
- Se evaluó el impacto funcional de la variante identificada en la actividad GEF hacia Rac1.
Principales resultados:
- Se identificó una variante patógena de error de sentido (c.4283G>A, p.Arg1428Gln) en el dominio GEFD1 del gen TRIO.
- Se sabe que esta variante deteriora la actividad del GEF hacia Rac1, afectando las vías de señalización neuronal cruciales.
- La variante no se detectó en los padres a través de la secuenciación de Sanger, dejando la línea germinal parental o el mosaicismo poszigótico temprano como posibles explicaciones.
Conclusiones:
- La secuenciación clínica del exoma es valiosa para el diagnóstico de trastornos raros del neurodesarrollo.
- Se sugiere una línea germinal paterna plausible, aunque no probada, o un evento de mosaico poscigótico temprano.
- Puede ser necesaria una investigación adicional para descartar definitivamente el mosaicismo y las explicaciones genéticas alternativas.
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