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

Kabuki syndrome type 1 (KS1) is a rare congenital disorder caused by heterozygous loss-of-function mutations in KMT2D – an H3K4 histone methyltransferase. 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.