The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach

• Published in: Genes Vol. 10; no. 11; p. 839
• Main Authors: Brussa Reis, Larissa, Turchetto-Zolet, Andreia Carina, Fonini, Maievi, Ashton-Prolla, Patricia, Rosset, Clévia
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 24.10.2019; MDPI
• Subjects: Animals; Cattle; Dogs; Evolution, Molecular; Gene Deletion; Genes; Genetic disorders; Genomes; Genomics; Genotype & phenotype; Genotypes; Humans; loss-of-function mutation; mammals; Mice; Mutation; neoplasms; Neurofibromatosis; Neurofibromatosis 1 - genetics; Neurofibromin 1; Neurofibromin 1 - genetics; Neurological disorders; Patients; phenotype; Phenotypes; Phylogenetics; Phylogeny; Positive selection; Primates; Proteins; Rats; Recklinghausen's disease; RING finger domains; Selection, Genetic; Tumors; Ubiquitin-Protein Ligases - genetics; Ubiquitination; neurofibromatosis type 1; phylogenetic analysis; microdeletions; genotype–phenotype correlations

Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5–10% of affected patients, generally encompass NF1 neighboring genes, and are correlated with a more severe NF1 phenot...