Genetic origins, inheritance and genotype-phenotype prognosis

This scientific section covers a number of important topics and issues. Here are some of the important points covered:

• Introduction
• Our genetic material, DNA, comes from our parents
• An essential element of cell multiplication: the conformal reproduction of the genome
• The heredity of genetic mutation
• The influence of a mutation: dominance, recessivity and penetrance of the mutated gene
• The particular genetics of NFs, their healthy or pathogenic variants
• Alternative splicing: the gene economy
• Comparison of phenotypes of NF1 pathogenic variants with a general population of NF1 patients
• Inheritance of rarer forms of NF: Genetic mosaics

About

Many patients wonder about the heredity of NFs: are they transmissible? Can we predict the degree of pathological damage and the types of pathologies a child will develop? This document will help you understand the vocabulary. Why NF1 is a monogamous autosomal dominant genetic disease? Why are the genetics of Schwannomatosis complex? Why are the correlations between genotypes and phenotypes variable? What are pathogenic variants and isoforms?