CHARGE syndrome: case report

Medicina y Laboratorio

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Title CHARGE syndrome: case report
Síndrome CHARGE: reporte de caso
Creator Acosta-Aragón, María Amparo
Arias-Linthon, Stephany
Tobar-Solarte, Juan Camilo
Subject CHARGE syndrome
CHARGE association
síndrome CHARGE
asociación CHARGE
Description CHARGE syndrome is a rare genetic disorder, which is usually diagnosed during the prenatal or neonatal period with the identification of numerous dysmorphic and congenital abnormalities, characterized by coloboma, heart defects, choanal atresia, retarded growth and development, hypogonadism, and hearing defects, with an incidence of 1 in every 12,000 to 15,000 live births. It has an autosomal dominant inheritance pattern, and between 60% and 70% of cases are caused by mutations in the CHD7 gene at chromosome 8, with the majority (>90%) of mutations occurring de novo. The case of a 6-year-old patient with a multiple malformation syndrome is described, who presented during the physical examination with short stature, ear abnormalities, prominent forehead, a history of esophageal atresia, sensorineural hearing loss, coloboma and horseshoe kidney, which are major and minor criteria for the clinical diagnosis of this condition. Subsequently, complete exome sequencing was performed, detecting a mutation in the CHD7 gene, that confirmed the diagnosis of CHARGE syndrome. It should be noted that although the molecular test confirms the diagnosis, a large percentage of patients with a clinical diagnosis of CHARGE syndrome do not have mutations in this gene sequence; therefore, clinical diagnosis, based on phenotypic features, continues demonstrating its relevance.
El síndrome CHARGE es un trastorno genético raro que generalmente se diagnostica durante el período prenatal o neonatal, con la identificación de numerosas anomalías dismórficas y congénitas, como coloboma, defectos cardiacos, atresia de coanas, retraso del crecimiento, hipogonadismo y defectos auditivos, con una incidencia de 1 por cada 12.000 a 15.000 nacidos vivos. Presenta un patrón de herencia autosómico dominante, y entre el 60% y el 70% de los casos se deben a mutaciones que alteran la secuencia del gen CHD7 en el cromosoma 8, las cuales en su mayoría (>90%) son mutaciones de novo. Se describe el caso de una paciente de 6 años con sospecha de síndrome de malformaciones múltiples, que presentó al examen físico talla baja, pabellones de baja implantación, frente amplia, antecedentes de atresia esofágica, hipoacusia neurosensorial, coloboma y riñón en herradura, los cuales son criterios mayores y menores para el diagnóstico clínico de la entidad. Posteriormente, se realizó secuenciación del exoma completo, detectándose alteración del gen CHD7, que confirmó el diagnóstico de síndrome CHARGE. Se debe tener presente que, aun-que la prueba molecular confirma el diagnóstico, un gran porcentaje de los pacientes con diagnóstico clínico de síndrome CHARGE no presentan alteraciones en la secuencia de este gen; por lo tanto, el diagnóstico clínico, basado en las alteraciones fenotípicas, continúa demostrando su relevancia.
Publisher EDIMECO S.A.
Date 2020-09-04
Type info:eu-repo/semantics/article
Format application/pdf
Source Medicina & Laboratorio; Vol. 25 No. 1 (2021): Enero-Marzo; 441-447
Medicina y Laboratorio; Vol. 25 Núm. 1 (2021): Enero-Marzo; 441-447
Language spa
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