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Updated: Sep 9, 2025

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Cuatro nuevas mutaciones genéticas están asociadas con el foramen oval en la población tibetana utilizando la

Hongwei Li¹, Yongjun He², Yong Wu¹

¹Department of Cardiology, Hospital of Chengdu Office of People's Government of Xizang Autonomous Region (Hospital.C.X.), Chengdu, China.

Frontiers in genetics

|September 3, 2025

Resumen

Este estudio identificó nuevas mutaciones en los genes GABRP, GJB4, RTTN y USH2A en pacientes con foramen oval tibetano (PFO). Estos hallazgos arrojan luz sobre la base genética del PFO en poblaciones de gran altitud.

Área de la Ciencia:

La genética
Cardiología
Salud de la población

Sus antecedentes:

El foramen oval patentado (PFO) es un defecto cardíaco congénito común relacionado con el accidente cerebrovascular y la migraña.
Los factores genéticos que contribuyen a la PFO, especialmente en las poblaciones tibetanas, no se comprenden bien.

Objetivo del estudio:

Identificar mutaciones patógenas potenciales en pacientes tibetanos con PFO utilizando secuenciación de exomas enteros (WES).
Aclarar la base genética de la PFO en este grupo étnico específico.

Principales métodos:

Se realizó la secuenciación completa del exoma (WES, por sus siglas en inglés) en 18 pacientes tibetanos con FOP.
El análisis bioinformático se utilizó para filtrar las variantes raras, y la patogenicidad se evaluó utilizando herramientas predictivas y bases de datos de genes.

Principales resultados:

Se identificaron cuatro nuevas mutaciones: GABRP (rs201584759), GJB4 (rs200602523), RTTN (rs199568901) y USH2A (rs144768593).
Las mutaciones GABRP, GJB4 y RTTN mostraron una asociación significativa con la enfermedad cardíaca congénita.

Conclusiones:

Este estudio destaca las mutaciones GABRP, GJB4, RTTN y USH2A como posibles contribuyentes a la PFO al interrumpir el desarrollo cardíaco.
Los hallazgos ofrecen información sobre los fundamentos genéticos de la PFO en poblaciones de gran altitud e informan sobre los enfoques de la medicina de precisión.

Palabras clave:

El Tíbet genética patente en el foramen ovale mutaciones patogenéticas secuenciación del exoma entero

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