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Tae Uk Cheon^1,2, Sun Young Joo^2,3, Sung Huhn Kim^2,4

¹Department of Otorhinolaryngology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

Scientific reports

|December 29, 2025

Resumen

Las variantes patogénicas en el gen STRC causan pérdida auditiva de leve a moderada que suele ser estable con el tiempo. Se recomienda el cribado genético dirigido para la detección temprana de la pérdida auditiva relacionada con STRC.

Área de la Ciencia:

Genética
Audiología
Otorrinolaringología

Sus antecedentes:

La pérdida auditiva no sindrómica autosómica recesiva a menudo es causada por variantes genéticas de STRC.
Las características clínicas y la progresión de la pérdida auditiva relacionada con STRC no se comprenden bien debido a las dificultades diagnósticas con el pseudogén pSTRC.

Objetivo del estudio:

Caracterizar el fenotipo y la historia natural de la pérdida auditiva neurosensorial (SNHL) relacionada con STRC.
Investigar los desafíos diagnósticos y el potencial de mejora en la detección de mutaciones STRC.

Principales métodos:

Análisis genético de 23 familias utilizando paneles de genes o secuenciación del exoma completo.
Se utilizaron la amplificación por ligación de sondas múltiples (MLPA) y la secuenciación de Sanger para la confirmación.
Evaluación longitudinal del umbral auditivo durante un máximo de 4 años.

Principales resultados:

Se identificaron 23 pacientes con SNHL relacionada con STRC, con varias variantes patogénicas, incluidas deleciones genéticas.
La mayoría de los pacientes presentaron SNHL de leve a moderada, que afectó a las frecuencias medias a altas.
Los umbrales auditivos se mantuvieron estables en el 75% de los oídos durante el período de seguimiento, sin una progresión significativa dependiente de la edad.

Conclusiones:

La pérdida auditiva relacionada con STRC es típicamente de leve a moderada y estable, con perfiles audiométricos similares en diferentes genotipos.
Los desafíos diagnósticos pueden conducir a un subreconocimiento; los ensayos de MLPA específicos de STRC podrían mejorar la detección temprana.
La mejora de la detección puede facilitar intervenciones de precisión oportunas para la pérdida auditiva relacionada con STRC.

Palabras clave:

CNV Pérdida auditiva genética Correlación genotipo-fenotipo Pérdida de función STRC Pérdida auditiva estable

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