Abstract：
The NAA10 gene encodes N-alpha-acetyltransferase 10 which plays an important role in cell growth, differentiation, DNA damage, metastasis, apoptosis, stress response and autophagy. Defects in the NAA10 gene correlate with the diagnosis of NAA10-related syndrome (Ogden syndrome). The most common symptoms of NAA10-related syndrome are: global developmental delay, non-verbal or limited speech, autism spectrum disorder, feeding difficulties, motor delay, muscle tone disturbances, and long QT syndrome. To-date, there are about 100 patients who have been reported with this condition. The case report presents the clinical study of a girl aged 4 years and 3 months diagnosed with Ogden syndrome. She had many characteristic features of the disorder, as well as precocious puberty. This girl represents the case of a patient with p.Arg83Cys mutation in NAA10 gene as well as precocious puberty.
摘要：
NAA10基因编码N-α-乙酰转移酶10，在细胞生长中起重要作用，分化,DNA损伤,转移,凋亡，应激反应和自噬。NAA10基因缺陷与NAA10相关综合征（Ogden综合征）的诊断相关。NAA10相关综合征最常见的症状是：全球发育迟缓，非语言或有限的言语，自闭症谱系障碍，喂养困难，电机延迟,肌肉张力紊乱，长QT综合征。到目前为止，据报道，大约有100名患者患有这种疾病。病例报告介绍了一名4岁零3个月的女孩被诊断患有奥格登综合征的临床研究。她有许多疾病的特征，还有性早熟.这个女孩代表了NAA10基因中p.Arg83Cys突变以及性早熟的患者的情况。
