Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

ABSTRACT: The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders are currently unknown, and no diagnostic marker has been identified. Consequently, providing a definitive diagnosis in suspected individuals is challenging. In this study, genome-wide DNA methylation analysis was conducted on DNA samples obtained from the peripheral blood of 53 individuals with RCEM characterized by clinical features recognized as VACTERL and/or oculoauriculovertebral spectrum association. We identified a common DNA methylation episignature in 40 out of the 53 individuals. Subsequently, a sensitive and specific binary classifier was developed based on the DNA methyla

SUBMITTER: Haghshenas S 

PROVIDER: S-EPMC11339616 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature