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Variante bialélica en el gen NRDC en dos hermanos con retraso del desarrollo y convulsiones

Fatemeh Fatehi¹, Zeinab Ghorbanoghli¹, Mahdieh Kooshki¹

¹Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

American journal of medical genetics. Part A

|December 26, 2025

Resumen

Se encontró una variante probablemente patógena en el gen NRDC en hermanos con trastornos graves del neurodesarrollo. Este hallazgo apoya NRDC

Área de la Ciencia:

Genética
Neurociencia
Biología Molecular

Sus antecedentes:

Los trastornos del neurodesarrollo (TDN) son afecciones genéticas complejas.
El papel del gen NRDC en el neurodesarrollo humano no se comprende completamente.
Las variantes bialélicas en NRDC se han asociado raramente con TDN.

Objetivo del estudio:

Investigar la base genética del retraso grave del neurodesarrollo en dos hermanos iraníes.
Identificar variantes patógenas en el gen NRDC y evaluar su segregación dentro de la familia.
Ampliar la comprensión del papel de NRDC en los trastornos del neurodesarrollo.

Principales métodos:

Se realizó secuenciación del exoma completo (WES) en los hermanos afectados.
Se utilizó la secuenciación de Sanger para confirmar la segregación de variantes en la familia.
Se documentaron fenotipos clínicos que incluyen microcefalia, hipotonía, convulsiones y ausencia de habla.

Principales resultados:

Se identificó una nueva deleción bialélica con cambio de marco (c.1702_1703del) en el gen NRDC en ambos hermanos.
La variante NRDC identificada se segregó con la enfermedad en la familia.
Los hermanos afectados presentaron retraso grave del neurodesarrollo, microcefalia, hipotonía, convulsiones y ausencia de habla.

Conclusiones:

Las variantes patógenas bialélicas en NRDC se asocian con trastornos graves del neurodesarrollo.
Este estudio proporciona evidencia adicional del papel crítico de NRDC en el desarrollo del cerebro humano.
Ampliar el espectro fenotípico asociado con las variantes de NRDC es crucial para el diagnóstico y la comprensión.

Palabras clave:

genética neurociencia biología molecular

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