NF1 Gene

The NF1 gene (NF1 stands for neurofibromin 1) is a protein-coding gene located on chromosome 17q11.2. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. However, their function has not yet been fully elucidated.

Mutation detection is extremely complex due to the size of the NF1 gene, the presence of pseudogenes, and the wide variety of mutations (Ko JM et al. 2013). For example, a large Korean NF1 population showed 52 different NF1 mutations identified in 60 families. The mutations included 30 single base substitutions (12 missense and 18 nonsense mutations), 11 missplicing mutations, seven small insertions or deletions, and four large deletions. Sixteen (30.8%) mutations were novel; c.1A>G, c.2033_2034insC, c.2540T>C, c.4537C>T, c.5546G>A, c.6792C>A, and c.6792C>G were consistently identified. The mutations were evenly distributed across exon 1 to intron 47 of NF1. No mutation hotspots were found. Genotype-phenotype analysis suggests that there is no clear relationship between specific mutations and clinical features (Ko JM et al. 2013).

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3. Ko JM et al (2013) Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. Pediatr Neurol 48:447-453.
4. Sabbagh A et al. (2013) NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat 34:1510-1518.