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El análisis de ARN revela una variante de PARN patógena en la disqueratosis congénita

Daria Akimova¹, Natalia Semenova¹, Tatiana Cherevatova¹

¹Research Centre for Medical Genetics, Moscow, Russia.

Clinical genetics

|August 26, 2025

Resumen

Este estudio identifica una nueva variante intrónica en el gen PARN que causa disqueratosis congénita (DC) en un paciente con síntomas atípicos. El análisis de ARN funcional confirmó la variante

Área de la Ciencia:

La genética
Biología molecular
Enfermedades raras

Sus antecedentes:

La disqueratosis congénita (DC) es un trastorno genético raro relacionado con defectos en el mantenimiento de los telómeros.
La DC presenta diversos síntomas, incluida la insuficiencia de la médula ósea y problemas mucocutáneos.
Este caso involucra a un paciente con características atípicas de DC como microcefalia y retraso en el desarrollo.

Objetivo del estudio:

Para investigar la causa genética de la disqueratosis congénita atípica en un hombre de 14 años.
Para caracterizar una nueva variante intrónica en el gen PARN.
Demostrar la utilidad de la secuenciación del genoma completo (WGS) y el análisis del ARN funcional en el diagnóstico de trastornos genéticos complejos.

Principales métodos:

Se realizó la secuenciación del genoma completo (WGS) para identificar las variantes genéticas.
Se realizó un análisis de ARN funcional para evaluar el impacto de las variantes identificadas.
Los estudios de ARN evaluaron el salto de exones y la desintegración mediada por el no sentido (NMD).

Principales resultados:

Se identificaron dos variantes del gen PARN: una variante patógena conocida y una nueva variante intrónica (c.178-28T>C).
La variante intrónica interrumpió el empalme del ARN, causando el salto del exón 4 y la NMD.
Esto confirmó la patogenicidad de la nueva variante intrónica.

Conclusiones:

La nueva variante intrónica de PARN es patógena y contribuye a la disqueratosis congénita.
La validación funcional es crucial para interpretar las variantes no codificantes en los trastornos genéticos.
Esto amplía el espectro genético y clínico conocido de DC relacionado con PARN.

Palabras clave:

El gen PARN Análisis del ARN Sistemas de montaje de acero punto de la rama Disqueratosis congénita Variante intrónica Variante sin codificación

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