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La insuficiencia de ABL1 está asociada con el omfalócele aislado dominante
Caroline M Kolvenbach1,2,3, Öznur Yilmaz4, Filipa M Lopes5
1Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Frontiers in cell and developmental biology
|August 22, 2025
Resumen
El análisis genético identificó una nueva variante en el gen ABL1 como la primera causa monogénica de onfalocele dominante aislado. Esta haploinsuficiencia del gen ABL1 conduce a defectos en la pared abdominal, ofreciendo nuevos conocimientos sobre el onfalocele.
Área de la Ciencia:
- La genética
- Biología del desarrollo
- Biología molecular
Sus antecedentes:
- El onfalocele es un raro defecto de la pared abdominal con causas genéticas desconocidas para las formas aisladas.
- Hasta la fecha no se han identificado factores genéticos para el onfalocele aislado no-sindrómico.
Objetivo del estudio:
- Identificar la base genética de un onfalocele dominante aislado en una familia múltiple.
- Para aclarar el mecanismo molecular subyacente a la omfalocele asociada con ABL1.
Principales métodos:
- La secuenciación del exoma se realizó en una familia de cuatro generaciones con onfalocele dominante aislado.
- Se utilizaron predicciones in silico y cuantificación de ARNm para evaluar los efectos de las variantes.
- La inmunodetección en embriones humanos y la hibridación in situ en embriones de ratón se emplearon para estudiar los patrones de expresión de ABL1.
Principales resultados:
- Se identificó una nueva variante del sitio de empalme (c.310 + 3A>C) en el gen ABL1 en individuos afectados.
- La variante da como resultado mRNA empalmado alternativamente, codón de terminación prematura y reducción de la abundancia de mRNA ABL1 a través de la descomposición mediada por el no sentido (NMD).
- ABL1 se expresa en tejidos embrionarios cruciales para el cierre de la pared abdominal, incluido el cordón umbilical y el ectodermo de la pared abdominal.
Conclusiones:
- La haploinsuficiencia ABL1 es la primera causa monogénica identificada de onfalocele dominante aislado.
- El empalme aberrante y la degradación mediada por NMD del ARNm ABL1 subyacen al mecanismo de la enfermedad.
- El papel de ABL1 en el desarrollo embrionario destaca su importancia en la formación de la pared abdominal.
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