Genomic annotation of a non-coding region deleted on 4q25 [CUT&RUN]
we identified 7 families presenting a new cardiac entity associated with a heterozygous deletion of 2 CTCF binding sites on 4q25, inducing TAD fusion and chromatin conformation remodeling. The CTCF binding sites are located in a gene desert at 1 Mb from the Paired-like homeodomain transcription factor 2 gene (PITX2). Overall design: CUT&RUN on histone marks H3K4me3, H3K4me1 and H3K27ac and on the CTCF transcription factor