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Mutaciones compuestas heterocigotas del gen BRAT1 que causan síndrome de rigidez neonatal letal y convulsiones
Dong-Yuan Qin1, Qin-Qin Tang1, Dan Feng1
1Department of Neonatology, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, China.
Frontiers in pediatrics
|February 25, 2026
Resumen
Nuevas mutaciones compuestas heterocigotas del gen BRAT1, incluida una rara variante sinónima que afecta el empalme del ARNm, causaron el síndrome de rigidez neonatal letal y convulsiones multifocales (RMFSL). Esto amplía las causas genéticas conocidas de RMFSL.
Área de la Ciencia:
- Genética; Neurología; Pediatría
Sus antecedentes:
- Las mutaciones bialélicas en el gen BRAT1 están relacionadas con el síndrome de rigidez neonatal letal y convulsiones multifocales (RMFSL).
- El RMFSL se presenta con epilepsia refractaria, hipertonía, disfunción autonómica y mortalidad temprana.
- Este estudio se centra en un caso específico de lactante para comprender mejor el RMFSL asociado con BRAT1.
Objetivo del estudio:
- Informar un caso de RMFSL en un lactante con mutaciones compuestas heterocigotas novedosas del gen BRAT1.
- Investigar la patogenicidad de una variante sinónima rara de BRAT1 que afecta el empalme del ARNm.
- Ampliar la comprensión del espectro genotípico de BRAT1-asociado RMFSL.
Principales métodos:
- Se realizó una secuenciación de exoma completo en el lactante afectado.
- Identificación y caracterización de mutaciones compuestas heterocigotas de BRAT1.
- Análisis bioinformático para predecir el impacto de la variante sinónima en el empalme del ARNm.
Principales resultados:
- El lactante presentó convulsiones, pie zambo e insuficiencia respiratoria, compatibles con RMFSL.
- Se identificaron mutaciones compuestas heterocigotas de BRAT1 (c.1395G>C, p.Thr465Thr y c.1297delC, p.Leu433Trpfs*).
- La variante sinónima (c.1395G>C) mostró un impacto de alto riesgo predicho en el empalme del ARNm.
- El lactante, a pesar de los cuidados de apoyo, falleció a la edad de un mes.
Conclusiones:
- Las variantes sinónimas de BRAT1 pueden ser patogénicas al afectar el empalme del ARNm, lo que conduce a RMFSL grave.
- Este caso amplía las variaciones genéticas conocidas asociadas con RMFSL.
- El análisis bioinformático integral es crucial para identificar variantes patogénicas no codificantes en las pruebas genéticas.
Palabras clave:
gen BRAT1empalme aberrantemutaciones compuestas heterocigotassíndrome de rigidez neonatal letal y convulsiones multifocalesepilepsia neonatalmutación sinónimasecuenciación de exoma completoMás Videos Relacionados
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