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

被引：0

作者：

Garcia-Diaz, Juan de Dios ^{[1
]}

Balsa-Vazquez, Javier ^{[1
]}

Rodriguez-Villa, Ana ^{[2
]}

Ferriz, Esther ^{[3
]}

机构：

[1] Univ Alcala, Univ Hosp Principe Asturias, Dept Internal Med, Clin Genet Unit, Madrid 28805, Spain

[2] Univ Alcala, Univ Hosp Principe Asturias, Dept Dermatol, Madrid, Spain

[3] Hlth In Code, Dept Med Genet, Valencia, Spain

来源：

PEDIATRIC DERMATOLOGY | 2025年 / 42卷 / 01期

关键词：

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

D O I：

10.1111/pde.15734

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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 caf & eacute;-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.

引用

页码：136 / 138

页数：3

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