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Mutaciones recurrentes SLCO1B1 y SLCO1B3 identificadas en tres pacientes con síndrome de Rotor

Chenyu Zhao^1,2, Hui Huang²

¹Department of Gastroenterology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.

Frontiers in medicine

|September 3, 2025

Resumen

El síndrome del rotor, un trastorno genético raro, es causado por mutaciones en los genes SLCO1B1 y SLCO1B3. Este estudio identificó mutaciones específicas en tres pacientes chinos, avanzando en la comprensión de esta condición.

Área de la Ciencia:

La genética
Biología molecular
Pediatría

Sus antecedentes:

El síndrome de Rotor es una rara enfermedad genética autosómica digénica recesiva.
Se caracteriza por hiperbilirrubinemia conjugada.
Las mutaciones patógenas en los genes SLCO1B1 y SLCO1B3 causan el síndrome de Rotor.

Objetivo del estudio:

Para establecer un diagnóstico genético para tres pacientes chinos con el síndrome de Rotor.
Para identificar mutaciones específicas en los genes SLCO1B1 y SLCO1B3 en estos pacientes.
Contribuir a la identificación de las mutaciones de los puntos calientes en el síndrome de Rotor.

Principales métodos:

Se empleó la secuenciación de todo el exoma para identificar mutaciones.
Se realizó un análisis genético en tres pacientes diagnosticados con síndrome de Rotor.
Se analizaron variantes genéticas específicas en SLCO1B1 y SLCO1B3.

Principales resultados:

Los tres pacientes compartían la misma mutación homocigótica c. 1738C> T en SLCO1B1.
La variante c. 481+22insLINE en SLCO1B3 también se identificó en todos los pacientes.
Las mutaciones identificadas confirman la base genética del síndrome de Rotor en la cohorte estudiada.

Conclusiones:

El diagnóstico genético se estableció con éxito para los tres pacientes.
El estudio destaca mutaciones recurrentes específicas en SLCO1B1 y SLCO1B3.
Los hallazgos contribuyen a una mejor comprensión del paisaje genético del síndrome de Rotor.

Palabras clave:

Síndrome del rotor Las demás sustancias Se incluyen los siguientes elementos:hiperbilirrubinemia en el estómago mutación

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