What is Mutation?

A mutation is a punctual change in the DNA sequence of a gene. This alteration can cause the gene not to express itself correctly and lead to genetic diseases such as Huntington's disease, cystic fibrosis, Fragile X syndrome or hemophilia, to name only a few.

Mutations can also be transmitted to the offspring, so a child will have a greater or lesser probability of inheriting a genetic disease from his or her parents depending on the type of mutation and the pattern of inheritance.