Bloom syndrome is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. The diagnosis is established on characteristic clinical features and/or presence of biallelic pathogenic variants in the BLM gene. An increased frequency of sister-chromatid exchanges is also observed and can be useful to diagnose BS patients with weak or no clinical features. For the first time, we derived an induced pluripotent cell line from a Bloom syndrome patient retaining the specific sister-chromatid exchange feature as a unique tool to model the pathology.

Bloom综合征的特征在于严重的出生前和产后生长缺陷，免疫异常，对日光的敏感性，胰岛素抵抗以及在早期发生的许多癌症的高风险。根据特征性临床特征和/或BLM基因中双等位基因致病变体的存在来确定诊断。还观察到姐妹染色单体交换的频率增加，这对于诊断临床特征较弱或没有临床特征的BS患者很有用。首次，我们从Bloom综合征患者中获得了诱导的多能细胞系，该细胞系保留了特定的姐妹染色单体交换功能，作为建模病理的独特工具。