A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.

ABSTRACT:

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

SUBMITTER: Zhang T 

PROVIDER: S-EPMC8172195 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature