Characterization of a novel epigenetic boundary and long range epigenetic modifications specific to FMR1 expansion carriers with behavioural and cognitive disorders - implications for earlier diagnosis and treatment.

脆性X综合征(FXS)是最常见的遗传性智力残疾和自闭症，由FMR1基因的错误开关引起。我们发现了在FXS中重要的新DNA区域。该项目旨在解释这些新区域是如何调控FMR1基因的。这对于发现和验证对患有FMR1障碍的儿童和成人的早期诊断、治疗和治疗的新途径以及为生殖决策提供信息至关重要。

Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gene FMR1. We have discovered new DNA regions important in FXS. The project aims to explain how these new regions regulate the FMR1 gene. This is essential for the discovery and validation of new avenues for earlier diagnosis, treatments and therapies for children and adults with FMR1 disorders and also for informing reproductive decisions.