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Explorando la patogenicidad y la correlación genotipo-fenotipo de la microduplicación 16p13.11: un informe de dos
Jialu Xu1, Xiaoyan Shen1, Wencong Chen1
1Department of Rehabilitation, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child and Adolescents' Health and Diseases, Hangzhou, China.
Translational pediatrics
|February 9, 2026
Resumen
16p13.11 el síndrome de microduplicación presenta síntomas variables, incluso en las familias. Este estudio destaca la penetración incompleta y sugiere explorar las interacciones genéticas para un mejor manejo del paciente.
Área de la Ciencia:
- Genética La genética.
- La medicina genómica es la medicina genómica.
- Genética Humana Genética Humana.
Sus antecedentes:
- 16p13.11 el síndrome de microduplicación es un trastorno genómico raro.
- Se caracteriza por presentaciones clínicas variables, que van desde asintomáticas hasta trastornos del desarrollo neurológico.
Objetivo del estudio:
- Investigar las correlaciones genotipo-fenotipo en 16p13.11 microduplicación.
- Analizar casos para comprender la variabilidad en las manifestaciones clínicas.
Principales métodos:
- Se realizó la secuenciación completa del exoma en dos pacientes y sus padres.
- Se realizaron análisis de bioinformática, evaluación de patogenicidad y análisis de variación del número de copias.
Principales resultados:
- Se identificaron distintas microduplicaciones 16p13.11 en dos pacientes y sus padres.
- El paciente 2 también tenía una variante heterocigótica patógena en PRRT2 heredada de su madre.
Conclusiones:
- Los hallazgos confirman la penetración incompleta y la variabilidad fenotípica de la microduplicación 16p13.11.
- Sugiere una mayor investigación sobre los mecanismos patógenos y las interacciones genéticas (por ejemplo, PRRT2).
- Recomienda un monitoreo estandarizado para los portadores, especialmente aquellos con variantes comórbidas.
Palabras clave:
16p13.11 microduplicación por microduplicación 16p13.11 microduplicación por microduplicación 16p13.11 microduplicación por microduplicaciónLa mutación de PRRT2 es una mutación de PRRT2.El autismo es autismo.La epilepsia infantil familiar benigna y benigna es una epilepsia infantil.Informe de caso, informe de caso.
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