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Variants in NAA15 cause pediatric hypertrophic cardiomyopathy
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-10-26 , DOI: 10.1002/ajmg.a.61928
Alyssa Ritter 1, 2 , Justin H Berger 2 , Matthew Deardorff 3 , Kosuke Izumi 1, 4 , Kimberly Y Lin 2 , Livija Medne 1 , Rebecca C Ahrens-Nicklas 1, 4
Affiliation  

The NatA N‐acetyltransferase complex is important for cotranslational protein modification and regulation of multiple cellular processes. The NatA complex includes the core components of NAA10, the catalytic subunit, and NAA15, the auxiliary component. Both NAA10 and NAA15 have been associated with neurodevelopmental disorders with overlapping clinical features, including variable intellectual disability, dysmorphic facial features, and, less commonly, congenital anomalies such as cleft lip or palate. Cardiac arrhythmias, including long QT syndrome, ventricular tachycardia, and ventricular fibrillation were among the first reported cardiac manifestations in patients with NAA10‐related syndrome. Recently, three individuals with NAA10‐related syndrome have been reported to also have hypertrophic cardiomyopathy (HCM). The general and cardiac phenotypes of NAA15‐related syndrome are not as well described as NAA10‐related syndrome. Congenital heart disease, including ventricular septal defects, and arrhythmias, such as ectopic atrial tachycardia, have been reported in a small proportion of patients with NAA15‐related syndrome. Given the relationship between NAA10 and NAA15, we propose that HCM is also likely to occur in NAA15‐related disorder. We present two patients with pediatric HCM found to have NAA15‐related disorder via exome sequencing, providing the first evidence that variants in NAA15 can cause HCM.

中文翻译:

NAA15 变异导致小儿肥厚型心肌病

NatA N-乙酰转移酶复合物对于共翻译蛋白修饰和多个细胞过程的调节很重要。NatA 复合物包括NAA10(催化亚基)和NAA15(辅助成分)的核心成分。无论NAA10NAA15与具有重叠临床特征的神经发育障碍有关,包括可变的智力障碍、畸形的面部特征,以及不太常见的先天性异常,如唇裂或腭裂。心律失常,包括长 QT 综合征、室性心动过速和室颤是 NAA10 相关综合征患者首次报道的心脏表现。最近,有报道称三名患有 NAA10 相关综合征的人也患有肥厚型心肌病 (HCM)。NAA15 相关综合征的一般和心脏表型不如 NAA10 相关综合征描述得好。先天性心脏病,包括室间隔缺损和心律失常,例如异位房性心动过速,已在一小部分 NAA15 相关综合征患者中报道。鉴于之间的关系NAA10NAA15,我们认为 HCM 也可能发生在 NAA15 相关疾病中。我们介绍了两名通过外显子组测序发现患有 NAA15 相关疾病的儿科 HCM 患者,提供了NAA15中的变异可导致 HCM的第一个证据。
更新日期:2020-12-17
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