Genotype-Phenotype+Correlations

Genotype- Phenotype Correlations:

 Why so much variability? NF1 is characterized by extreme clinical variability between unrelated and related individuals and between a single individual as well (Friedman 2012). This is what makes it so difficult to treat and manage. The extremely high amount of variability in patients with NF type 1 suggests that other factors are involved, other genetic modifiers unlinked to the NF1 locus likely contribute to the variable expression of disease ( Sabbagh et al 2009). This various other factors involved in the variability of expression of disease and even the genetics of the disease have not been fully identified. Work is still being conducted in order to determine what these various factors are that contribute a great deal to the genotypic-phenotypic correlations that are observed with this disease. Only two phenotypes have been seen in such large numbers that they could be identified and characterized, and their genotype-phenotype correlation could be studied. Those two phenotypes are Noonan Syndrome and Leopard Syndrome (Friedman 2012).

 Neurofibromatosis Type 1