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La secuenciación del exoma trio de una cohorte de hipoplasia del nervio óptico revela evidencia de una arquitectura
Jennifer G Aparicio1, Kevin Stachelek1,2, Pamela Garcia-Filion1,3
1The Vision Center and The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California, USA.
Ophthalmic genetics
|August 31, 2025
Resumen
La hipoplasia del nervio óptico (ONH) es una de las principales causas de ceguera congénita. El análisis genético identificó 161 genes que potencialmente contribuyen al riesgo poligénico, destacando las asociaciones de desarrollo neurológico y autismo.
Área de la Ciencia:
- La genética
- Oftalmología
- Trastornos del desarrollo neurológico
Sus antecedentes:
- La hipoplasia del nervio óptico (ONH) es la principal causa congénita de ceguera permanente.
- Implica un déficit de células ganglionares de la retina (RGC) al nacer y a menudo está relacionado con problemas neurológicos y endocrinos.
- Los fundamentos genéticos y los factores ambientales de la ONH siguen siendo en gran medida inexplorados.
Objetivo del estudio:
- Para identificar las variantes monogénicas que causan la enfermedad en pacientes con ONH.
- Investigar las posibles contribuciones poligénicas a la etiología de la ONH.
- Explorar la relación entre la ONH, los trastornos del desarrollo neurológico y el autismo.
Principales métodos:
- Se realizó la secuenciación del exoma completo en 34 sujetos ONH y sus padres.
- Se identificaron y filtraron variantes raras utilizando la frecuencia de la población, las predicciones de patogenicidad y las métricas de restricción mutacional.
- Se analizaron los genes para la recurrencia, el enriquecimiento de la ontología génica, la expresión de RGC y la asociación con el autismo y los trastornos del desarrollo neurológico.
Principales resultados:
- Se encontraron mutaciones potencialmente patógenas en genes con restricciones mutacionales.
- Estos genes se enriquecen en las ontologías de procesos de desarrollo neurológico y se expresan en gran medida en los RGC.
- Se identificaron 161 genes con variantes potencialmente patógenas, lo que sugiere un modelo de riesgo poligénico para la ONH.
Conclusiones:
- Los factores genéticos, potencialmente poligénicos, juegan un papel importante en la ONH.
- Las asociaciones con genes relacionados con el desarrollo neurológico y el autismo sugieren caminos biológicos superpuestos.
- Las investigaciones adicionales sobre estos 161 genes pueden dilucidar la patogénesis de la ONH.
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