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Novedad en la variante intrónica de MYL1 con fenotipo ampliado

Maria Barington1, Marie Balslev-Harder1, Thomas Krag2

  • 1Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.

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Resumen

La miopatía congénita-14 (CMYO14), un trastorno genético raro, se identificó en un recién nacido con hipotonía grave y problemas respiratorios. Este caso destaca una nueva variante intrónica en el gen MYL1, ampliando las causas genéticas conocidas de CMYO14.

Palabras clave:
MYL1CMYO14ARNempalme aberrantemiopatía congénita-14variante intrónica

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Área de la Ciencia:

  • Genética
  • Biología Molecular
  • Neurología

Sus antecedentes:

  • La miopatía congénita-14 (CMYO14) es un trastorno autosómico recesivo ultrarraro.
  • Es causada por variantes bialélicas en el gen MYL1, con solo cuatro pacientes reportados previamente.
  • La afección se presenta con hipotonía grave, insuficiencia respiratoria y anomalías esqueléticas.

Objetivo del estudio:

  • Presentar un nuevo caso de miopatía congénita-14.
  • Caracterizar la base genética y molecular de la enfermedad en este paciente.
  • Ampliar la comprensión del espectro genotípico y fenotípico de los trastornos relacionados con MYL1.

Principales métodos:

  • Análisis genético para identificar variantes en el gen MYL1.
  • Análisis de ARN de tejido muscular del paciente para evaluar el empalme.
  • Predicción de empalme in silico para evaluar el impacto de la variante identificada.

Principales resultados:

  • Se identificó una nueva variante intrónica homocigota (c.479-25T>C) en el gen MYL1.
  • Se observó un empalme aberrante, lo que provocó un cambio de marco de lectura y un codón de parada prematuro, o el salto de exones.
  • El paciente presentó características típicas de CMYO14 junto con anomalías craneofaciales no descritas previamente.

Conclusiones:

  • Este caso representa al quinto paciente reportado con CMYO14.
  • Los hallazgos amplían el espectro genotípico y fenotípico de la enfermedad relacionada con MYL1.
  • Las variantes intrónicas y su impacto en el empalme son cruciales para el diagnóstico de CMYO14, lo que enfatiza la utilidad de los análisis integrados de ARN in silico y funcionales.