Different de novo mutations in the <scp><i>NF1</i></scp> gene in a family with neurofibromatosis type 1-Reference-Cited by-同舟云学术

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

Published:2024-09-03 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

García‐Díaz Juan de Dios¹^ORCID,Balsa‐Vázquez Javier¹,Rodríguez‐Villa Ana²,Férriz Esther³

Affiliation:

1. Clinical Genetics Unit, Department of Internal Medicine University Hospital Príncipe de Asturias, University of Alcalá Madrid Spain

2. Department of Dermatology University Hospital Príncipe de Asturias, University of Alcalá Madrid Spain

3. Department of Medical Genetics Health in Code Valencia Spain

Abstract

AbstractThe 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.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15734

Reference9 articles.

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