Single-cell RNA sequencing of a PBMC sample collected from a male with 45,X/48,XYYY karyotype

We report a 14-year-old boy with mosaic 45,X/48,XYYY karyotype presenting with subtle dysmorphic features and height deficiency, requiring growth hormone therapy. Single-cell RNA sequencing revealed widespread differences in genotype distribution between 45,X and 48,XYYY immune cells, with concordant results at DNA level. Deregulation of predominantly autosomal genes was observed, including TCL1A overexpression in 45,X B-lymphocytes and other known genes associated with hematological malignancies, prompting long-term personalized hemato-oncological surveillance in the reported patient.EGA study EGAS00001005697

本研究报道1例携带嵌合型45,X/48,XYYY核型的14岁男性患儿，其临床表现为轻微畸形特征与身材矮小，需接受生长激素治疗。单细胞RNA测序（Single-cell RNA sequencing）显示，45,X与48,XYYY免疫细胞之间存在广泛的基因型分布差异，且该结果在DNA层面获得了一致验证。研究观察到以常染色体基因为主的基因表达失调，包括45,X型B淋巴细胞中TCL1A基因的过表达，以及其他与血液系统恶性肿瘤相关的已知基因，据此需对该患者开展长期个性化血液肿瘤监测。EGA研究 EGAS00001005697