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Un caso de síndrome CHARGE con una nueva variante intrónica en el gen CHD7

Eda Kaya¹, Emine Çamtosun¹, İsmail Dündar¹

¹İnönü University Faculty of Medicine, Division of Pediatric Endocrinology, Malatya, Türkiye.

Journal of clinical research in pediatric endocrinology

|September 5, 2025

Resumen

El síndrome CHARGE, un trastorno genético causado por variaciones en el gen CHD7, presenta múltiples anomalías. Este caso pone de relieve una nueva variante y la importancia del diagnóstico precoz para el tratamiento oportuno de las complicaciones asociadas.

Área de la Ciencia:

La genética
Pediatría
Informes de casos médicos

Sus antecedentes:

El síndrome de CHARGE es un trastorno autosómico dominante relacionado con mutaciones en el gen CHD7.
Las características clave incluyen coloboma, defectos cardíacos, atresia coanal, retraso en el desarrollo, anomalías genitourinarias y anomalías del oído.
La identificación temprana es crucial para manejar los problemas de salud asociados.

Objetivo del estudio:

Informar de un caso de síndrome CHARGE en un paciente pediátrico con una nueva variante del gen CHD7.
Para enfatizar las manifestaciones clínicas y el proceso de diagnóstico para el síndrome de CHARGE.
Para subrayar la importancia del diagnóstico y la intervención temprana.

Principales métodos:

Evaluación clínica de un varón de 7.7 años con retraso en el desarrollo y múltiples anomalías congénitas.
Revisión de los antecedentes médicos, incluidas las cirugías por atresia coanal y cardiopatía congénita.
Análisis genético para identificar variantes en el gen CHD7.

Principales resultados:

Se identificó una nueva variante heterocigótica c.5050+2T>C en el intrón 22 del gen CHD7, lo que confirma el síndrome CHARGE.
El paciente presentaba características como coloboma, atresia coanal, defectos cardíacos, retraso en el crecimiento y retraso en el desarrollo.
La deficiencia de la hormona del crecimiento fue diagnosticada y tratada con terapia de la hormona del crecimiento.

Conclusiones:

Se encontró una nueva variante heterocigótica de CHD7 en un paciente con características clásicas del síndrome CHARGE.
Este caso ilustra la variabilidad fenotípica y los desafíos de diagnóstico en el síndrome de CHARGE.
El diagnóstico oportuno facilita el manejo rápido de las complicaciones, mejorando los resultados del paciente.

Palabras clave:

En el caso de los Informe sobre el caso hormona del crecimiento Variante intrónica el síndrome

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