SETD5 gene variant associated with mild intellectual disability - a case report.
“SETD5 gene variant associated with mild intellectual disability - a case report.”, Genet Mol Res, vol. 16, no. 2, 2017.
, 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.