Mutations in MED13 are inherited in an autosomal dominant manner, but to date almost all cases resulted from a de novo mutation. To date, the majority of reported cases are sporadic (i.e., occur as isolated cases in a family).
A single case of autosomal dominant inheritance is reported (mother to child transmission).
The molecular mechanism of pathogenicity surrounding MED13 mutations is still debated.
To date, the majority of MED13 mutations are missense variant, i.e., which results in different amino acids being encoded at a particular position in the resulting protein.
Genetic testing can be arranged by a clinical geneticist and involves the collection of a sample of blood or saliva from the affected individual (and eventually the parents). DNA will be analysed to highlight MED13 mutations. Comparing the DNA from the affected individual and from the parents may facilitate the detection of de novo mutations.
MED13