靠近的1q21重复:一个综合征或易感的位置?
Michal Levy1,2, Mordechai Shohat2,3, Sarit Kahana1
1The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
American journal of medical genetics. Part A
|June 26, 2023
概括
靠近的1q21.1微复制,一种复发性遗传变异,与神经发育问题有关. 这项研究发现,它对男性的影响更大,男性从母亲那里继承,而不是女性从父亲那里继承.
科学领域:
- 遗传学 是一个遗传学.
- 人类遗传学 人类遗传学
- 发展生物学 发展生物学
背景情况:
- 靠近的1q21微复制是一种带有不完全透度和可变表达性的综合征.
- 像这种微复制这样的反复复制拷贝数变异 (CNV) 越来越被认为是导致遗传疾病的重要贡献者.
- 了解表型谱和遗传模式对于遗传咨询和诊断至关重要.
研究的目的:
- 要报告28个近接1q21.1微复制的新病例.
- 总结这些微重复的表型,性别分布和父母起源的数据.
- 为了确定近端1q21.1微重复的种群频率和临床意义.
主要方法:
- 对本地数据库 (27,990个案例) 和外部队列 (80,000个案例) 的分析.
- 从临床和对照组中检索了孤立的近端1q21.1微复制 (GRCh37/hg19) 的数据.
- 染色体微阵列 (CMA) 用于检测具有先天性异常,自闭症谱系障碍,发作和发育迟缓/智力障碍的病例.
主要成果:
- 总共有62个异合体病例被确定,包括28个指数病例和34个家庭成员.
- 在临床组的13个指数病例中,10个呈现出发育异常,所有都是从母亲遗传的.
- 发现人口频率大约为1:1000,没有发现新的病例. 这种情况似乎更严重地影响从母亲继承的男性,而不是从父亲继承的女性.
结论:
- 靠近的1q21.1微复制是一种与神经发育异常相关的复发性中枢神经神经瘤.
- 母亲遗传,特别是在男性中,似乎与更大的影响有关.
- 这些发现强调了在临床评估1q21.1微复制时考虑父母的起源和性别的重要性.
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