Work

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

Year: 2024

Type: article

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.

Source: Pediatric Dermatology

DOI: 10.1111/pde.15734

Authors: Juan de Dios García‐Díaz, Javier Balsa‐Vázquez, Ana Rodríguez‐Villa, Esther Férriz

Institutions: Universidad de Alcalá, Hospital Universitario Príncipe de Asturias

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,730