Open AccessA novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study
Author(s) -
Zhang Tingting,
Jia Caiwei,
Dong Zhiya,
Li Chuanyin,
Lu Wenli
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1643
Subject(s) - neurofibromatosis , maldevelopment , neurofibromin 1 , mutation , medicine , neurofibroma , café au lait spot , genetics , phenotype , missense mutation , dysplasia , malignancy , cancer research , gene , bioinformatics , pathology , biology , anatomy
Background Neurofibromatosis type 1 is an autosomal dominant inherited disease and caused by NF1 gene mutation. Its clinical manifestations include multiple cafe´‐au lait (CAL) spots, skinfold freckling, neurofibroma, bone dysplasia, learning disabilities, and an increased risk of malignancy. Methods and Results Here, we reported a Chinese patient bearing with a novel NF1 mutation (c.2064delGGATGCAGCGG/p.Gly672AsnfsTer24) and complaining mainly about bone phenotype. Functional studies found that this novel mutation caused the damage of NF1 mRNA and protein levels, and lost the inhibition on Ras/Erk signaling. Conclusion A novel mutation in NF1 gene was identified and in vitro functional studies were performed, which provided a potential molecular mechanism to explain the bone maldevelopment of patients with neurofibromatosis type 1.