一个 1 型神经纤维瘤病家族中 NF1 基因的不同基因突变。

IF 1.2 4区医学 Q3 DERMATOLOGY Pediatric Dermatology Pub Date : 2025-01-01 Epub Date: 2024-09-03 DOI:10.1111/pde.15734

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

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引用次数: 0

摘要

临床诊断 1 型神经纤维瘤病 (NF1) 的标准对幼儿并不敏感。如果父母中的一方已被确诊患有此病，且已知致病基因突变，则更容易确诊。我们介绍了一例患有孤立性咖啡色斑的女孩，她的父亲被诊断患有 NF1。然而，两人都被发现携带不同的 NF1 基因新突变。这种可能性对诊断过程和遗传咨询具有重要意义。

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

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.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.