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<p>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 characterised. We present a multi-omic dataset from primary dermal fibroblasts of seven individuals with KS1 and nine unaffected donors. The dataset comprises bulk RNA-seq from all sixteen donors and ATAC-seq from ten of these donors (six KS1, four controls); the ten donors profiled by both assays therefore provide paired transcriptomic and chromatin-accessibility data. All libraries were processed through standardised bioinformatics pipelines, with differential analyses performed using established batch-correction methods. This dataset provides a somatic-tissue reference for studying KMT2D haploinsufficiency and related Mendelian chromatinopathies.</p>

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Transcriptomic and chromatin accessibility dataset from Kabuki syndrome type 1 skin fibroblasts

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年8月4日

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  • Emile Danvin,
  • Paolo Salerno,
  • Eleonora Di Venere,
  • Gabriella Maria Squeo,
  • Dario Righelli,
  • Giuseppe Merla

摘要

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 characterised. We present a multi-omic dataset from primary dermal fibroblasts of seven individuals with KS1 and nine unaffected donors. The dataset comprises bulk RNA-seq from all sixteen donors and ATAC-seq from ten of these donors (six KS1, four controls); the ten donors profiled by both assays therefore provide paired transcriptomic and chromatin-accessibility data. All libraries were processed through standardised bioinformatics pipelines, with differential analyses performed using established batch-correction methods. This dataset provides a somatic-tissue reference for studying KMT2D haploinsufficiency and related Mendelian chromatinopathies.