Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.

ABSTRACT: The challenges and ambiguities in providing an accurate diagnosis for patients with neurodevelopmental disorders have led researchers to apply epigenetics as a technique to validate the diagnosis provided based on the clinical examination and genetic testing results. Genome-wide DNA methylation analysis has recently been adapted for clinical testing of patients with genetic neurodevelopmental disorders. In this paper, preliminary data demonstrating a DNA methylation signature for Renpenning syndrome (RENS1 - OMIM 309500), which is an X-linked recessive neurodevelopmental disorder caused by variants in polyglutamine-binding protein 1 (PQBP1) is reported. The identified episignature was then utilized to construct a highly sensitive and specific binary classification model. Besides providing

SUBMITTER: Haghshenas S 

PROVIDER: S-EPMC10400603 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature