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Mutaciones simultáneas en los genes DNAH5 y FOXE3: una ocurrencia única en la infancia

Asha Krishnamurthy¹, Anand Verma², Sayan Biswas²

¹Department of Anatomy, Employee's State Insurance Corporation Gulbarga, Gulbarga, India.

Anatomy & cell biology

|February 12, 2026

Resumen

Las pruebas genéticas identificaron mutaciones en DNAH5, vinculadas a la discinesia ciliar primaria (PCD), y FOXE3, asociadas con trastornos oculares, en un bebé con microftalmia. Este caso pone de relieve la base genética de las condiciones congénitas complejas.

Área de la Ciencia:

Genética La genética.
Oftalmología Oftalmología.
Pulmonología Pulmonología.

Sus antecedentes:

La discinesia ciliar primaria (PCD) es un trastorno genético raro que afecta la función de los cilios, lo que lleva a problemas respiratorios.
Los trastornos del desarrollo ocular, como la microftalmia, pueden tener varias causas genéticas.
La consanguinidad aumenta el riesgo de enfermedades genéticas autosómicas recesivas.

Objetivo del estudio:

Para investigar la causa genética de la microftalmia y los síntomas respiratorios en un bebé.
Para identificar mutaciones patógenas en genes asociados con la PCD y el desarrollo del ojo.

Principales métodos:

Se realizó la secuenciación completa del exoma en el bebé.
Las variantes genéticas se analizaron y clasificaron de acuerdo con las pautas de ACMG.
El riesgo de recurrencia se calculó para embarazos futuros.

Principales resultados:

Se encontraron mutaciones patógenas homocigotas en la cadena pesada axonemal Dynein 5 (DNAH5) y Forkhead Box E3 (FOXE3).
La mutación de DNAH5 está asociada con la discinesia ciliar primaria (PCD).
La mutación FOXE3 está relacionada con trastornos del desarrollo ocular, incluida la microftalmia.

Conclusiones:

La condición del bebé se atribuye a las mutaciones homocigotas compuestas en DNAH5 y FOXE3.3.
El asesoramiento genético es crucial para las familias con consanguinidad y antecedentes de trastornos genéticos.
Este caso subraya la importancia de un análisis genético exhaustivo para las presentaciones de síndromes.

Palabras clave:

Disgénesis del segmento anterior.La microftalmia es una enfermedad que afecta a los microorganismos.La mutación es una mutación.La discinesia ciliar primaria es una discinesia ciliar primaria.La esclerocornea es la esclerocornea.

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