Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

ABSTRACT:

Background

Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X-chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue differences in XCI, and skewing of XCI all likely contribute to the clinical severity of individuals with RTT.

Methods

We analyzed the XCI patterns from blood samples of 320 individuals and their mothers. It includes individuals with RTT (n = 287) and other syndromes sharing overlapping phenotypes with RTT (such as CDKL5 Deficiency Disorder [CDD, n = 16]). XCI status in each proband/mother duo and the parental origin of the preferentially inactivated X chromosome were analyzed.

Results

The average XCI ratio in probands was slightly increa

SUBMITTER: Fang X 

PROVIDER: S-EPMC9034674 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature