POLG Mutations Are Probably Rare in the Han Chinese Population  

作　　者：Kunfang Yang Linyi Meng Yuanfeng Zhang Yongchen Yang Hongyi Cheng Zhihu Jiang Hong Zhang Yucai Chen 

机构地区：[1]Department of Neurology,Shanghai Children's Hospital,Shanghai Jiao Tong University,Shanghai 200062,China [2]Department of Pharmacy,Shanghai Children's Hospital,Shanghai Jiao Tong University,Shanghai 200062,China [3]Clinical Laboratory,Shanghai Children's Hospital,Shanghai Jiao Tong University,Shanghai 200062,China

出　　处：《Chinese Medical Sciences Journal》2020年第4期350-356,共7页中国医学科学杂志（英文版）

摘　　要：Objective Mutations in polymerase gamma gene(POLG)are believed to be an important cause of early and juvenile onset of non-syndromic intractable epilepsy.The aim of this study is to investigate the incidence/prevalence of POLG pathogenic variants in epilespy patients of Han population through sequencing it.Methods Han Chinese patients with seizures prior valproic acid(VPA)exposure at Shanghai Children\Hospital were collected from 2015 to 2019.The clinical diagnosis was based on the 2014 Consensus Statement of Epilepsy by the International League against Epilepsy(ILAE).Blood sampling were performed before VPA treatment.The POLG gene DNA was sequenced by either the first or the next generation sequencing(NGS).The POLG variant burden was illustrated.Liver functions were tested to describe whether they experienced VPA toxicity.Results Ibtally 216 Han Chinese patients were included,aged from 1 month to IS years old,102 were male and 114 were female.The onset age was 1 month old to 13 years old,and the epilepsy course ranged from 2 weeks to about 3 years.VPA treatment was delivered for the generalized or intractable partial seizures at standard dosage.No patient experienced hepatic toxicity following VPA exposure.DNA sequencing data showed no patient had either a homozygous mutation or compound heterozygous mutation of POLG.Single heterozygous mutations of c.1150G>T and p.D384Y were found in 2 patients,and single heterozygous mutation of c.l56_158dupGCA was found in 1 patient.None of these variants showed clinical significance.Conclusions Functional modifying POLG homozygous mutations and compound heterozygous mutations were not detected and VPA toxicity was not seen in the current study.POLG mutation frequency might be rare in Han Chinese,and standard VPA.therapeutic dosage might be safe for Han Chinese patients.

关 键 词：polymerase gamma POLG EPILEPSY valproic acid Han Chinese 

分 类 号：R742.1[医药卫生—神经病学与精神病学]