Article
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Human molecular genetics - 3 Nov 2023
Lee Sunwoo, Menzies Lara, Hay Eleanor, Ochoa Eguzkine, Docquier France, Rodger Fay, Deshpande Charu, Foulds Nicola C, Jacquemont Sébastien, Jizi Khadije, Kiep Henriette, Kraus Alison, Löhner Katharina, Morrison Patrick J, Popp Bernt, Richardson Ruth, van Haeringen Arie, Martin Ezequiel, Toribio Ana, Li Fudong, Jones Wendy D, Sansbury Francis H, Maher Eamonn R
Abstract excerpt
Germline pathogenic variants in two genes encoding the lysine-specific histone methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental disorders (NDDs) characterized by developmental delay and congenital anomalies. The SETD1A and SETD2 gene products play a critical role in chromatin-mediated regulation of gene expression. Specific methylation episignatures have been detected for a range of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.