4p16.1位点破坏作为精神分裂症和双相情感障碍的一个风险因素。
locus disruption on 4p16.1 as a risk factor for schizophrenia and bipolar disorder.
作者信息
Horiuchi Yasue, Ichikawa Tomoe, Ohnishi Tetsuo, Iwayama Yoshimi, Toriumi Kazuya, Miyashita Mitsuhiro, Nohara Izumi, Obata Nanako, Toyota Tomoko, Yoshikawa Takeo, Itokawa Masanari, Arai Makoto
机构信息
Schizophrenia Research Project, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Department of Infection Control Science, Meiji Pharmaceutical University, Tokyo, Japan.
出版信息
Hum Genome Var. 2020 Sep 29;7:31. doi: 10.1038/s41439-020-00117-7. eCollection 2020.
We had previously reported the case of a male patient with schizophrenia, having de-novo balanced translocation. Here, we determined the exact breakpoints in chromosomes 4 and 13. The breakpoint within chromosome 4 was mapped to a region 32.6 kbp upstream of the LDB2 gene encoding Lim domain binding 2. Variant screening in revealed a rare novel missense variant in patients with psychiatric disorder.
我们之前报道过一例患有精神分裂症且有新发平衡易位的男性患者。在此，我们确定了4号和13号染色体上的确切断点。4号染色体内的断点被定位到编码LIM结构域结合蛋白2的LDB2基因上游32.6千碱基对的区域。对患有精神疾病的患者进行变异筛查发现了一种罕见的新型错义变异。
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