Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Baylor Genetics, Houston, TX.
Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8.
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021;89:828-833.
中介多蛋白复合物作为 RNA 聚合酶 II 催化的基因转录的调节剂。在这项研究中，外显子组测序在 11 个家系的 16 名具有新型神经发育综合征的患者中检测到编码中介复合物亚基 27 的 MED27 存在双等位基因潜在致病变异。患者表型高度同质，包括全面发育迟缓、智力残疾、伴有远端痉挛的轴性张力减退、张力障碍运动和小脑发育不良。严重受影响的个体中注意到癫痫发作和白内障。多个具有 MED27 双等位基因变异的患者的鉴定支持 MED27 在正常人类神经发育中的关键作用，特别是对小脑。神经病学年鉴 2021；89：828-833。
