Frameshift mutation

Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I

J. Villa-Morales, López-Muñoz, E., Juárez-Melchor, D., García-Hernández, N., Minauro-Sanmiguel, F., Aguirre-Hernández, J., Gutiérrez-Iglesias, G., and Arenas-Aranda, D. J., Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I, vol. 14, pp. 8326-8337, 2015.

Neurofibromatosis type I is an autosomal dominant disease with complete penetrance and variable age-dependent expressivity. It is caused by heterozygous mutations in neurofibromin 1 (NF1). These occur throughout the length of the gene, with no apparent hotspots. Even though some mutations have been found repeatedly, most have been observed only once. This, along with the variable expressivity, has made it difficult to establish genotype-phenotype correlations.

Subscribe to Frameshift mutation