在患有史密斯-马根尼斯症候群的CHD2兄弟姐妹中,低度的父母恶性形马赛克主义
Francesca Cogliati1, Letizia Straniero2,3, Valeria Rimoldi2,3
1Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
概括
这项研究确定了CHD2突变,神经发育障碍的原因的父母 gonosomal 马赛克的第一个实例. 这一发现凸显了对父母进行马赛克主义测试的重要性,以评估患有受影响儿童的家庭中复发风险.
科学领域:
- 遗传学 遗传学 是一个
- 神经发育障碍 神经发育障碍
- 是一种病.
背景情况:
- CHD2 (染色体酶DNA结合蛋白2) 的功能丧失突变与神经发育障碍有关,包括早期发作和智力障碍.
- 大多数报告的CHD2突变是零星的,以前仅在两个家族中记录了生殖系马赛克.
- 受影响的个体经常表现出精神运动延迟,智力障碍,自闭症特征以及攻击性和冲动性等行为问题.
研究的目的:
- 报告第一个父母恶性瘤CHD2马赛克的病例.
- 为了研究神经发育障碍的遗传基础在两个兄弟轻度智力障碍和发作.
- 强调CHD2查和受影响个体的家长马赛克主义测试的重要性.
主要方法:
- 下一代测序 (NGS) 定制基因小组用于儿科和/或智力障碍.
- 对父母外周血液和口腔抽样进行NGS分析.
- 数字聚合酶连锁反应 (dPCR) 证实低级恶性体马赛克.
主要成果:
- 两位来自健康父母的兄弟被发现携带相同的致病性CHD2变种.
- 没有受到影响的母亲被确定为CHD2变异的低级恶性体马赛克,通过dPCR得到证实.
- 这代表了第一个被记录的父母恶性CHD2马赛克的案例.
结论:
- 建议对智力残疾/发育迟缓,和/或行为/睡眠障碍,暗示史密斯-马格尼斯综合征的人进行CHD2查.
- 检测到CHD2变异应促使家长使用NGS和dPCR进行恶性体马赛克的测试,以确定复发风险.
- 这一案例扩大了对CHD2突变遗传模式和神经发育障碍中复发风险的理解.
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