Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene NF1, which encodes neurofibromin, a negative regulator of rat sarcoma proteins. NF1 is an autosomal dominant disorder with complete penetrance, but a highly variable expression. Identification of genotype-phenotype correlations is challenging because of the wide clinical variability, the progressive nature of the disorder and the extreme diversity of the mutation spectrum. Only a few NF1 point variants have been associated with a specific phenotype in NF1 patients.

Methods

We investigated a large, well-phenotyped NF1 cohort.

Results

We report analyses of genotype-phenot

SUBMITTER: Pacot L 

PROVIDER: S-EPMC12703300 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature