NAA10-related syndrome.
NAA10-related syndrome.
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DOI：
10.1038/s12276-018-0098-x
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发表时间：
2018-07-27
影响因子：
12.8
通讯作者：
Lyon GJ
中科院分区：
文献类型：
--
作者：
Wu Y;Lyon GJ
NAA10相关综合征是一种X-连锁疾病，具有广泛的发现，从NAA10中p.Ser37Pro的男性中的严重表型（最初描述为Ogden综合征）到男性和女性中不同变体的轻度NAA10相关智力残疾。虽然发育障碍/智力障碍可能是表现特征（在某些情况下是唯一的发现），但许多人还有其他类型和严重程度不同的心血管、生长和畸形发现。因此，这组疾病具有显著的表型变异性，因此，应更广泛地称为NAA10相关综合征。NAA10编码一种酶NAA10，该酶肯定参与蛋白质的氨基末端乙酰化，以及该蛋白质的其他功能。NAA10变异如何导致人类各种表型的机制基础是一个活跃的研究领域，本文将对其中一些进行综述。一种罕见的X连锁遗传性疾病的详细概述为临床医生提供了一种资源，可以根据遗传数据和发育异常做出明智的诊断。大约80%的人类蛋白质通过乙酰基标记在其氨基末端进行修饰，而NAA10酶在此过程中起着重要作用。编码NAA10的基因突变会产生严重的神经和心血管效应。美国伍德伯里冷泉港实验室的Yiyang Wu和Gholson里昂回顾了当前的研究，以促进"NAA 10相关综合征"的准确识别。由于这种基因位于X染色体上，突变强烈影响男性，尽管一些女性携带者也会出现症状。NAA10相关综合征非常罕见，迄今为止只有26例报告，研究人员描述了已知的致病突变和产生类似发育缺陷的不相关疾病。
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with different variants in both males and females. Although developmental impairments/intellectual disability may be the presenting feature (and in some cases the only finding), many individuals have additional cardiovascular, growth, and dysmorphic findings that vary in type and severity. Therefore, this set of disorders has substantial phenotypic variability and, as such, should be referred to more broadly as NAA10-related syndrome. NAA10 encodes an enzyme NAA10 that is certainly involved in the amino-terminal acetylation of proteins, alongside other proposed functions for this same protein. The mechanistic basis for how variants in NAA10 lead to the various phenotypes in humans is an active area of investigation, some of which will be reviewed herein. A detailed overview of a rare X-linked hereditary disorder gives clinicians a resource for making an informed diagnosis based on genetic data and developmental abnormalities. Around 80% of all human proteins are modified on their amino terminus via tagging with an acetyl group, and the NAA10 enzyme plays a major role in this process. Mutations in the gene encoding NAA10 produce severe neurological and cardiovascular effects. Yiyang Wu and Gholson Lyon at the Cold Spring Harbor Laboratory, Woodbury, USA, have reviewed current research to facilitate accurate identification of ‘NAA10-related syndrome’. Since this gene resides on the X chromosome, mutations strongly affect males, although some female carriers also show symptoms. NAA10-related syndrome is exceedingly rare, with only 26 cases reported to date, and the researchers describe both known causative mutations and unrelated disorders that produce similar developmental defects.
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