Genetic studies have identified rare RELN variants as risk factors for psychiatric disorders. However, additional genetic factors appear to be necessary for disease onset. Detailed genetic information and the use of patient-derived neuronal cells may thus enable to discover these disease-related additional factors. Here, we performed whole-genome sequencing of a schizophrenia patient with a rare RELN deletion and his healthy mother, and examined the phenotypes of 3D-cultured neuronal cells derived from induced pluripotent stem cells of this patient. Our results revealed that, along with the RELN deletion, neuronal death was promoted in this patient; thus, neuronal death may be a vulnerable factor for schizophrenia.

中文翻译：

---

通过结合基因组和患者来源的细胞分析表征具有罕见 RELN 缺失的精神分裂症患者

遗传研究已将罕见的 RELN 变异确定为精神疾病的危险因素。然而，额外的遗传因素似乎是疾病发作所必需的。因此，详细的遗传信息和患者来源的神经元细胞的使用可能有助于发现这些与疾病相关的额外因素。在这里，我们对一名患有罕见 RELN 缺失的精神分裂症患者及其健康母亲进行了全基因组测序，并检查了来自该患者诱导多能干细胞的 3D 培养神经元细胞的表型。我们的结果显示，随着 RELN 缺失，该患者的神经元死亡得到促进；因此，神经元死亡可能是精神分裂症的一个脆弱因素。