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Desentrañar las mutaciones de la CBS y su impacto clínico en una familia china con homocistinuria clásica

  • 0Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, China.
Molecular Genetics & Genomic Medicine +

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29 de agosto de 2025

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29 de agosto de 2025

Ver abstracta en PubMed

Resumen

Este resumen es generado por máquina.

Este estudio identifica nuevas mutaciones genéticas de la cistionina beta-sintasa (CBS) en una familia china con homocistinuria clásica (HCU). Los hallazgos amplían el conocido espectro de mutaciones de la CBS y ayudan al asesoramiento genético para las poblaciones chinas.

Área De La Ciencia

  • La genética
  • La bioquímica
  • Ciencias médicas

Sus Antecedentes

  • La homocistinuria clásica (HCU, por sus siglas en inglés) es causada por la deficiencia de cistioniona beta-sintasa (CBS, por sus siglas en inglés).
  • El espectro mutacional de la CBS exhibe una variabilidad geográfica significativa.
  • Los casos chinos de HCU son raros y carecen de mutaciones comunes en puntos calientes.

Objetivo Del Estudio

  • Para caracterizar las nuevas variantes de la CBS en una familia china.
  • Para expandir el conocido espectro de mutaciones de la CBS.
  • Para informar las prácticas de asesoramiento genético para las poblaciones chinas.

Principales Métodos

  • Análisis de una familia china Yi con HCU.
  • Secuenciación del exoma completo (WES) y recopilación de datos metabólicos.
  • Evaluación de la patogenicidad mediante modelado de proteínas, Western blotting y ensayos de actividad enzimática.

Principales Resultados

  • Se han identificado mutaciones heterocigóticas compuestas de la CBS: c.1006C>T (p.Arg336Cys) y c.1061_1069del (p.Val354_Val356del).
  • La variante c.1061_1069del interrumpe la expresión de la CBS y la actividad enzimática.
  • Se identificaron variantes específicas de etnia y hiperhomocisteinemia leve en un hermano asintomático.

Conclusiones

  • Identificó la primera variante CBS c.1061_1069del y confirmó la patogenicidad c.1006C>T en China.
  • Amplió el espectro de mutación de la CBS, destacando las variantes específicas de la etnia.
  • Proporcionó información para el diagnóstico prenatal y el asesoramiento genético en las poblaciones chinas.

Palabras clave:

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