IXc型糖原贮积病中的PHKG2基因突变谱：一例报告及文献复习
PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.
作者信息
Li Chunyun, Huang Lihua, Tian Lang, Chen Jia, Li Shentang, Yang Zuocheng
机构信息
Department of Pediatrics, The Third Xiangya Hospital, Central South University, Changsha, P.R. China.
Department of the Center for Medical Experiments, The Third Xiangya Hospital, Central South University, Changsha, P.R. China.
出版信息
J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):331-338. doi: 10.1515/jpem-2017-0170.
BACKGROUND
PHKG2 gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due to PHKG2 mutation is the second most common GSD IX.
METHODS
We identified a novel mutation (c.553C>T, p.Arg185X) in PHKG2 in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of the PHKG2 gene was summarized based on 25 GSD IXc patients with PHKG2 mutations.
RESULTS
We found that missense mutation (39%) was the most common type of mutation, followed by nonsense mutation (23%). Mutations were more prevalent in Asian (12/25) and European (9/25) populations than in populations from elsewhere. The exons had more sites of mutation than the introns, and exons 3 and 6 were the most frequent sites of mutations.
CONCLUSIONS
This study expands our knowledge of the PHKG2 gene mutation spectrum, providing a molecular basis for GSD IXc.
背景
PHKG2基因突变可导致肝脏磷酸化酶激酶（PhK）缺乏，这与IX型糖原贮积病（GSD IX）相关。由PHKG2突变引起的GSD IXc是第二常见的GSD IX。
方法
我们在中国一个家系中鉴定出PHKG2基因的一个新突变（c.553C>T，p.Arg185X），并通过二代测序和桑格测序进行了验证。基于25例携带PHKG2突变的GSD IXc患者总结了PHKG2基因的突变谱。
结果
我们发现错义突变（39%）是最常见的突变类型，其次是无义突变（23%）。突变在亚洲人群（12/25）和欧洲人群（9/25）中比在其他地区人群中更普遍。外显子的突变位点比内含子多，外显子3和6是最常见的突变位点。
结论
本研究扩展了我们对PHKG2基因突变谱的认识，为GSD IXc提供了分子基础。
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