Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease.

ABSTRACT:

Background

Cri du chat (also called 5p deletion, or monosomy 5p) syndrome is a genetic disease caused by deletions of various lengths in the short (p) arm of chromosome 5. Genetic analysis and phenotyping have been used to suggest dose-sensitive genes in this region that may cause symptoms when a gene copy is lost, but the heterogeneity of symptoms for patients with similar deletions complicates the picture. The epigenetics of the syndrome has only recently been looked at with DNA methylation measurements of blood from a single patient, suggesting epigenetic changes in these patients. Here, we conduct the deepest epigenetic analysis of the syndrome to date with DNA methylation analysis of eight Cri du chat patients with sibling- and age-matched controls.

Results

The genome-w

SUBMITTER: Holland P 

PROVIDER: S-EPMC9563797 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature