MBD5相关神经发育障碍（MAND）的临床与分子学方面
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
作者信息
Mullegama Sureni V, Elsea Sarah H
机构信息
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
出版信息
Eur J Hum Genet. 2016 Aug;24(9):1235-43. doi: 10.1038/ejhg.2016.35. Epub 2016 May 25.
Abstract
MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common set of neurodevelopmental, cognitive, and behavioral impairments. This review provides a comprehensive clinical and molecular synopsis of 2q23.1 deletion syndrome. Approaches to diagnosis, genetic counseling, and up-to-date management are summarized, followed by a discussion of the molecular and functional role of MBD5. Finally, we also include a brief summary of MBD5 variants that affect function of MBD5 and 2q23.1 duplication syndrome.
摘要
MBD5相关神经发育障碍（MAND）是一个统称，用于描述一组疾病，包括2q23.1缺失综合征、2q23.1重复综合征和MBD5变异体，这些疾病会影响甲基结合结构域5（MBD5）的功能，并具有一组共同的神经发育、认知和行为障碍。本综述提供了2q23.1缺失综合征的全面临床和分子概述。总结了诊断方法、遗传咨询和最新管理方法，随后讨论了MBD5的分子和功能作用。最后，我们还简要总结了影响MBD5功能的MBD5变异体和2q23.1重复综合征。
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