一种普遍的TMEM260删除会导致心脏缺陷,包括动脉
Naoya Saijo1, Hisao Yaoita1, Jun Takayama2,3,4,5
1Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
American journal of medical genetics. Part A
|October 19, 2024
概括
在日本,TMEM260的遗传变异是动脉断层 (TA) 的主要原因,可能解释了超过一半的TA病例. 这一发现凸显了TMEM26060的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 发展生物学 发展生物学
背景情况:
- 结节性心脏缺陷,包括结节性动脉 (TA),是严重的先天性形.
- 22q11.2删除综合征是TA的已知贡献者,但其他主要原因仍然难以捉摸.
- TMEM260最近被确定为日本人口中TA的重要原因.
研究的目的:
- 调查TMEM260作为日本人口中TA的潜在主要遗传原因.
- 识别新的TMEM260变体并评估它们的流行率和表型谱.
- 评估TMEM260在TA和相关的干缺陷家族病例中的作用.
主要方法:
- 一个家庭的TA和双出口右心室 (DORV) 的遗传分析.
- 复合异性TMEM260变体的识别和表征,包括大量删除和无意义突变.
- 在日本人口中鉴定了TMEM260变异的基于人群的基因基因频率分析.
主要成果:
- 一个家族呈现了复合异性TMEM260变体:一个7066-bp删除 (外因子6-7) 和c.1393C>T (p.Gln465*).
- 在日本人群中,7066-bp删除的等位基因频率为0.17%.
- 结合以前报告的c.1617del变体 (0.36%的等位基因频率),TMEM260变体可能占日本TA病例的50%以上.
- TMEM260变种与多种表型相关,包括DORV.
结论:
- 致病性TMEM260变种可能是日本人口中最常见的TA遗传原因.
- TMEM260突变解释了TA病例的很大一部分以及一系列的干性心脏缺陷.
- 对TMEM260变异的基因测试对于诊断日本TA患者和相关的先天性心脏病非常有价值.
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