CGG repeats in unexplained intellectual disability.

With this work, we want to add evidence to our hypothesis that expanded CGG-repeats in the genome can explain a percentage of the genetic causes of patients with a the mental handicap. Disorders caused by repeat expansions remain hidden from routine diagnostics at the moment due to the inherent limitations of the commonly used short read sequencing technologies. These are not able to detect repeat expansions. Yet, repeat expansions is the cause of the fragile X syndrome, the most frequent cause of ID and we argue in this proposal that many more repeat expansions in the genome may underlie as yet unknown forms of ID. In this proposal, we aim to specifically look for novel repeat expansion disorders in a population of a yet undiagnosed patients.

Keywords:GENETIC SCREENING

Disciplines:Clinical genetics and molecular diagnostics