Kabuki syndrome type I fibroblast multi-omics dataset: ATAC-seq profiles from primary skin fibroblasts

While KMT2D function during early development is increasingly understood, the transcriptional and chromatin accessibility consequences of its loss in differentiated somatic tissues remain poorly characterized. We present a multi-omic dataset from primary dermal fibroblasts of seven individuals with KS type I and nine unaffected donors.

The dataset comprises bulk RNA-seq from sixteen donors (nineteen libraries across two sequencing batches, including three donors sequenced in both batches to assess technical replicability) and ATAC-seq from ten donors (six KS, four controls). All libraries were processed through standardized nf-core pipelines, with differential analyses performed using DESeq2 with RUVSeq batch correction. This resource is intended to facilitate research on Kabuki syndrome type 1 and by expanding the available models for studying the group of mendelian disorders known as chromatinopathies.