一个熟悉的MYCBP2致病变体的第一份报告:扩大神经发育障碍的知识
I Maleva Kostovska1, P Noveski1, E Sukarova-Angelovska2
1Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Science and Arts, Skopje, North Macedonia.
Balkan journal of medical genetics : BJMG
|November 7, 2025
概括
一种新型的MYCBP2基因变异在一个家庭中导致神经发育障碍 (NDD). 这一发现扩大了对与MYCBP2相关的发育延迟与体缺陷 (MDCD) 综合征的理解.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 发展生物学 发展生物学
背景情况:
- MYCBP2基因是神经发育障碍 (NDD) 的潜在候选者.
- 与MYCBP2相关的发育迟缓与体缺陷 (MDCD) 是一种最近发现的疾病,其特点是体异常,发育迟缓,智力障碍,和自闭症特征.
- 之前报告的MDCD病例与不同的de novo变种有关.
研究的目的:
- 报告第一个家庭,其中有三个受影响的成员携带一种新的致病性MYCBP2变种.
- 描述MYCBP2相关NDDs家族中的临床表现和遗传发现.
- 进一步阐明MYCBP2在NDD和MDCD综合征的发病过程中的作用.
主要方法:
- 在三个受影响的家庭成员身上进行了整体外体测序 (WES).
- 在Illumina Nova Seq 6000上的Twist人类核心+RefSeq+线粒体面板被用于WES.
- 基因变异分析在MYCBP2基因中发现了一种新的功能丧失变异.
主要成果:
- 在MYCBP2中,在一个母亲和她的两个儿子身上发现了一种新的异质合体功能丧失变异 (NM_015057.5 c.7311del,p.(Leu2438Trpfs*3)).
- 鉴定到的变体导致移,导致无意中介衰变 (NMD) 和C端截断.
- 截断影响关键域 (RING和TC) 对于无素酶活性和突触调节至关重要.
结论:
- 这项研究介绍了来自同一家庭的三个个体的临床和遗传发现,其中三个个体患有新型MYCBP2变异.
- 这些发现支持MYCBP2在神经发育障碍的发病过程中的关键作用.
- 本报告有助于扩大最近公认的MYCBP2相关发育延迟与体缺陷 (MDCD) 综合征的表型谱.
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