一例二氢嘧啶酶缺陷症的DPYS基因变异分析  

Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency

作　　者：雷梅芳[1] 李鸿[1] 张玉琴[1] 舒剑波[2] 张倩茜 李青 Lei Meifang;Li Hong;Zhang Yuqin;Shu Jianbo;Zhang Qianqian;Li Qing(Department of Neurology,Tianjin Pediatric Hospital,Tianjin 300074,China;Tianjin Pediatric Research Institute,Tianjin Pediatric Hospital,Tianjin 300074,China)

机构地区：[1]天津市儿童医院神经内科,300074 [2]天津市儿童医院儿研所,300074

出　　处：《中华医学遗传学杂志》2020年第6期650-652,共3页Chinese Journal of Medical Genetics

摘　　要：目的确定1例二氢嘧啶酶(dihydropyrimidase,DHP)缺陷症患儿的DPYS基因的致病性变异。方法应用高通量测序技术对患儿进行测序,确定变异位点,用Sanger测序法对变异位点进行验证。结果患儿携带了DPYS基因c.1468C>T(p.Arg490Cys)和c.1339-1363del(p.Val447fs)复合杂合变异。结论DPYS基因c.1468C>T和c.1339-1363del复合杂合变异可能是患儿的致病性原因,致病变异的检出为家系的遗传咨询和产前诊断提供了依据。Objective To explore the genetic basis for a child with dihydropyrimidase(DHP)deficiency.Methods High-throughput sequencing was carried out for the child.Suspected variants were verified by using Sanger sequencing.Results The proband was found to carry compound heterozygous variants of the DPYS gene,namely c.1468C>T(a missense variant)and c.1339-1363del(a frameshifting variant).Conclusion The compound heterozygous variants of the DPYS gene probably underlie the DHP in this child.Above result has enabled genetic counseling and prenatal diagnosis for his parents.

关 键 词：二氢嘧啶酶缺陷症 DPYS基因 复合杂合变异 高通量测序 

分 类 号：R440[医药卫生—诊断学] R725.8[医药卫生—临床医学]