Here we provide a brief explanation of the common different types of mutations seen in FOXG1 Syndrome. Your geneticist should have provided you with a printed report and explained what the genetic mutation means. If you have a copy of the report and don't understand what it means contact us and we may be able to ask someone to explain it for you.

In FOXG1 the information that is carried by the genetic code provides a set of "instructions" for "building" and "maintaining" the human brain. Think of the genetic code as letters of the alphabet. In the alphabet, different letters can be combined to produce useful and meaningful words – but only if the letters are put together in the "correct" way. The same goes for DNA. Certain nucleotides (the base units of DNA), be it adenine (A), thymine (T), cytosine (C) or guanine (G), can be arranged in a specific manner to form a certain gene, which in turn, tells the brain cells to produce a specific protein.
Quite often this coding can go wrong. We all have genetic mutations but they don't always cause the body to function incorrectly. Unfortunately a mutation in the FOXG1 gene can have devastating effects because it controls how the brain develops and works.
The majority of FOXG1 mutations are known as de nouvo. This means they are new mutations and not inherited from the parents. When someone has a disabled child they often question if they did something in pregnancy to cause a problem but in many cases of genetic mutations it just happened and there was nothing you could do to prevent it.

A missense mutation occurs when there is a mistake in the DNA code and one of the DNA base pairs is changed, for example, A is swapped for C. Seen as A<C on a genetics report. This single change means that the DNA now encodes for a different amino acid. Sometimes a change in the amino acid has no effect on the resulting protein's function at all. In other cases it can ultimately render the protein as "faulty".

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