Atypical clinical manifestations and genotype-phenotype correlations of neurofibromatosis type 1

Purpose of the study : Analysis available data on geno-phenotypic correlations and atypical forms neurofibromatosis type 1. Material methods . We searched for relevant sources in Scopus, Web Science, PubMed systems, including publications from May 1993 to October 2021. Of 318 studies we identified, 59 were used write a systematic review. Results found describing 1 with an erased course without manifestation tumor syndrome, which are caused by specific mutations NF1 gene (causing substitutions amino acids neurofibromin: p.Arg1038, p.Met1149, p.Arg1809, or deletion acids: p.Met990del, p.Met992del). patients microdeletions characterized more severe disease symptoms (more often facial dysmorphism, skeletal cardiovascular abnormalities, learning difficulties, symptomatic spinal neurofibromas). splicing sites extended deletions associated early tumors, at 5’-end gene, causing shortening protein product, optic nerve gliomas. mutation c.3721C>T (p.R1241*) correlated structural brain damage, c.6855C>A (p.Y2285*) endocrine disorders. manifestations , similar lipomatosis Jaffe-Campanacci not described. Conclusion In spite pronounced clinical variability disease, even among members same family, several have described genotype-phenotype correlations. Therefore, role modifier genes epigenetic factors pathogenesis is assumed, since neurofibromin has complex structure functional domains. It been shown that severity syndrome influenced methylation characteristics adjacent areas. addition, variety microRNAs. therefore, targeted therapy aimed non-coding RNAs restore normal expression can become promising treatment