Thesis defense Lot Snijders Blok (Donders series 516)
15 October 2021
Promotor(s): prof. dr. H.G. Brunner, prof. dr. S.E. Fisher, prof. dr. T. Kleefstra
Let the genes speak! De novo variants in developmental disorders with speech and language impairment.
For this PhD project research was done on new DNA changes (de novo mutations) in children with developmental speech and language disorders. A de novo mutation is a DNA change newly present in a child, and thus not present in the parents. These mutations can be found by performing DNA testing in children with developmental speech and language disorders and their healthy parents. In this research project, de novo mutations were found in five genes that were not associated with developmental disorders before. This way, five new genetic disorders were described with speech and language impairment as a main feature. The effect of the found mutations at DNA and protein level was studied. In addition, the speech and language problems in an already known genetic disorder, SATB2-associated syndrome, were better characterized. The results of this research highlight the importance of DNA testing in children with developmental speech and language disorders.