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Una nueva variante de la región de empalme no canónica asociada con el síndrome de Gorlin: un informe de caso
Miriam J Smith1,2, Emily-Jayne Shell1,2, George J Burghel1,3
1Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
Molecular syndromology
|August 29, 2025
Resumen
El síndrome de Gorlin, un trastorno genético, fue diagnosticado en una paciente y su padre usando análisis de ADNc. Esto confirmó una nueva variante genética, ayudando a la detección y planificación familiar.
Área de la Ciencia:
- La genética
- Dermatología
- En el campo de la oncología
Sus antecedentes:
- El síndrome de Gorlin (GS) es un trastorno autosómico dominante raro.
- Se caracteriza por carcinomas de células basales, queratocitos de mandíbula y anomalías esqueléticas.
- Normalmente se identifican variantes patógenas en los genes PTCH1 o SUFU.
Objetivo del estudio:
- Para reportar un caso de síndrome de Gorlin con una nueva variante en la región germinal.
- Para reclasificar una variante de importancia incierta utilizando pruebas moleculares.
- Demostrar la utilidad de las pruebas genéticas para la planificación familiar y el cribado.
Principales métodos:
- El diagnóstico clínico del síndrome de Gorlin.
- Secuenciación de ADN de la línea germinal.
- análisis de ADNc para evaluar el impacto de la variante en la región de empalme.
Principales resultados:
- Se identificó una nueva variante de empalme de la línea germinal en una paciente y su padre.
- El análisis de ADNc confirmó la patogenicidad de la variante.
- La variante fue reclasificada de importancia incierta a patógena.
Conclusiones:
- La confirmación genética del síndrome de Gorlin es crucial para las familias afectadas.
- El análisis del ADNc es eficaz en la reclasificación de variantes de importancia incierta.
- El diagnóstico genético preciso facilita la planificación familiar y la detección de parientes en riesgo.
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