Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1.

García-Díaz, Juan de Dios; Balsa-Vázquez, Javier; Rodríguez-Villa, Ana; Férriz, Esther

García-Díaz, Juan de Dios; Balsa-Vázquez, Javier; Rodríguez-Villa, Ana; Férriz, Esther.

Afiliación

García-Díaz JD; Clinical Genetics Unit, Department of Internal Medicine, University Hospital Príncipe de Asturias, University of Alcalá, Madrid, Spain.
Balsa-Vázquez J; Clinical Genetics Unit, Department of Internal Medicine, University Hospital Príncipe de Asturias, University of Alcalá, Madrid, Spain.
Rodríguez-Villa A; Department of Dermatology, University Hospital Príncipe de Asturias, University of Alcalá, Madrid, Spain.
Férriz E; Department of Medical Genetics, Health in Code, Valencia, Spain.

Pediatr Dermatol ; 2024 Sep 03.

Article en En | MEDLINE | ID: mdl-39225241

ABSTRACT

ABSTRACT

The criteria for clinical diagnosis of neurofibromatosis type 1 (NF1) are not sensitive in young children. Recognition is easier when one of their parents has been diagnosed with this condition, and the causal mutation is known. We present a case of a girl with isolated café-au-lait spots, whose father was diagnosed with NF1. However, both were found to carry different de novo mutations in the NF1 gene. This possibility has significant implications for the diagnostic process and genetic counseling.

Palabras clave

NF1 gene; de novo mutations; genetic counseling; genetic diagnosis; neurofibromatosis type 1

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Pediatr Dermatol Año: 2024 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos

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