A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [RNA-seq]

In this study, we use transcriptomic approaches, to delineate a non-coding TAPT1 mutation (c.1237-52G>A) resulting in a protein-null allele, that segregated with a congenital recessive disease recessive consisting of Osteogenesis Imperfecta (OI) and neonatal progeria. RNA-seq measurements for fibroblast cells of two homzygous patients, one heterozygous mother and two unrelated wildtypes.

本研究借助转录组学手段，明确了一处非编码区TAPT1突变（c.1237-52G>A），该突变可产生蛋白表达缺失型等位基因，且与一种兼具成骨不全症（Osteogenesis Imperfecta，OI）和新生儿早衰症的先天性隐性遗传病共分离。本研究对2名纯合子患者、1名杂合子母亲以及2名无关野生型个体的成纤维细胞开展了RNA测序（RNA-seq）检测。