Holt-Oram syndrome at single cell resolution

Holt-Oram syndrome (HOS), characterized by heart and forelimb defects, is caused by mutations in the T-box transcription factor, TBX5. While much has been done to elucidate TBX5’s transcriptional mechanisms in animal and human induced pluripotent stem cell (iPSC) models, transcriptomics from HOS patient tissue is lacking. Here, we report single nuclear transcriptional profiling (snRNA-seq) of left ventricular (LV) tissue from a 10-year-old female HOS patient undergoing cardiac transplant surgery.