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

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

BackgroundNeurofibromatosis 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...

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Main Authors: Tao Lin, Zheyan Chen, Biwen Dong, Haojie Pan, Hai Wang, Xianjue Zheng, Kaixin Chen, Yanan Lai, Chenhui Zhang, Ye Dong, Zitong Xu, Menmen Lin, Xiujie Xi, Shuqi Xia, Yimin Wang, Wenhan Wang, Xiaoqing Li, Congcong Sun, Yanjun Hu, Fang Xu, Jianqiong Zheng, Fan Jin, Hongping Zhang, Jiayong Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Genetics
Subjects:
neurofibromatosis type 1
NF1
synonymous variation
splicing variant
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1572487/full
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