A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder characterized by café-au-lait macules, neurofibromas, and other manifestations. It is caused by variations in the NF1 gene located on chromosome 17q11.2. The gene's complexity and extensive variations often lead to misdiagnoses by conventional detection methods, which adverses to effective diagnosis and treatment strategies.

Case presentation

A 26-year-old Chinese woman was admitted to our hospital with multiple café-au-lait spots and cutaneous nodules. She had a family history of NF1, with her mother also showing similar dermatological symptoms. Whole exome sequencing (WES) identified a synonymous variation, NM_001042492.3: c.987A>G (p.K329K), in the NF1 gene. Although sy

SUBMITTER: Lin T 

PROVIDER: S-EPMC12098384 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature