期刊文献+

NPC1基因变异致尼曼匹克病C型患儿一例

Niemann-Pick disease type C caused by NPC1 mutation in a case
收藏 分享 导出
摘要 目的 对1例疑为尼曼匹克病C型的患儿进行临床和遗传学分析.方法 采用新一代测序技术对患儿进行基因变异分析,并对疑似致病性变异进行患儿及其父母的Sanger测序验证及生物信息学预测,用SIFT、PolyPhen-2和MutationTaste软件对新变异进行致病性分析.结果 基因测序发现患儿NPC1基因存在c.2728G>A(p.G910S)和c.269C>G(p.P90R)复合杂合变异,分别遗传自其母亲和父亲.NPC1基因c.2728G>A(p.G910S)变异为HGMD报道的已知致病性变异,c.269C>G(p.P9oR)变异目前未见文献报道,生物信息学预测为致病性变异.结论 患儿为NPC1基因复合杂合变异引起的尼曼匹克病C型,该发现丰富了NPC1基因变异谱,并为家系遗传咨询及产前诊断提供了依据. Objective To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C.Methods The patient underwent clinical examination and was subjected to next generation sequencing.Suspected mutations were validated by Sanger sequencing.Potential impact of the novel mutation was predicted by SIFT,PolyPhen-2 and Mutation Taste software.Results The child has featured hepatosplenomegaly,increased direct bilirubin,jaundiced skin and liver damage.DNA sequencing showed that he has carried compound heterozygous mutations of NPC1 gene,namely c.2728G>A(p.G910S)and c.269C>G(p.P90R),which were inherited from his mother and father,respectively.The c.2728G>A(p.G910S)mutation was previously reported,while the c.269C>G(p.P90R)was a novel mutation.Conclusion The child has suffered from Niemann-Pick disease type C due to mutations of NPC1 gene.This finding has enriched the spectrum of NPC1 mutations and provided a basis for genetic counseling and prenatal diagnosis.
作者 张光业 于风岭 张开慧 李府 律玉强 高敏 盖中涛 刘毅 Zhang Guangyel,Yu Fengling;Zhang Kaihuil,Li Fu;Lyu Yuqiang;Gao Minl,Gai Zhongtao;Liu Yi(Jinan Pediatric Research Institute,Qilu Children’s Hospital of Shandong University,Jinan,Shandong250022,China;Clinical Laboratory,Qilu Children’S Hospital of Shandong University,Jinan,Shandong 250022,China;Department of Hematology,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China)
出处 《中华医学遗传学杂志》 CAS CSCD 2019年第5期480-483,共4页 Chinese Journal of Medical Genetics
关键词 尼曼匹克病C型 NPC1基因 基因变异 新一代测序 Niemann-Pick disease type C NPC1 gene Mutations analysis Next generation sequencing
作者简介 通信作者:刘毅,Email:1iuyi—ly@126.com
  • 相关文献

参考文献1

二级参考文献21

  • 1鲁耀邦,彭菲,李孟贤,小林圭子,佐伯武赖.希特林蛋白缺乏症的研究进展及展望[J].中华医学遗传学杂志,2006,23(6):655-658. 被引量:15
  • 2Pentchev PG,Brady RO,Blanchette-Mackie EJ,et al.The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol[J].Biochim Biophys Acta,1994,1225 (3):235-243. 被引量:1
  • 3Steinberg SJ,Ward CP,Fensom AH.Complementation studies in Niemann-Pick disease type C indicate the existence of a second group[J].J Med Genet,1994,31 (4):317-320. 被引量:1
  • 4Vanier MT,Duthel S,Rodriguez-Lafrasse C,et al.Genetic heterogeneity in Niemann-Pick C disease:a study using somatic cell hybridization and linkage analysis[J].Am J Hum Genet,1996,58(1):118-125. 被引量:1
  • 5Vanier MT.Niemann-Pick disease type C[J].Orphanet J Rare Dis,2010,5:16. 被引量:1
  • 6Xiong H,Higaki K,Wei CJ,et al.Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C[J].Gene,2012,498:332-335. 被引量:1
  • 7Yang CC,Su YN,Chiou PC,et al.Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C[J].J Neurol Neurosurg Psychiatry,2005,76 (4):592-595. 被引量:1
  • 8Moyer V,Freese DK,Whitington PF,et al.Guideline for the evaluation of cholestatic jaundice in infants:recommendations of the North American Society for Pediatric Gastroenterology,Hepatology and Nutrition[J].J Pediatr Gastroenterol Nutr,2004,39(2):115-128. 被引量:1
  • 9Macías-Vidal J,Rodríguez-Pascau L,Sánchez-Ollé G,et al.Molecular analysis of 30 Niemann-Pick type C patients from Spain[J].Clin Genet,2011,80(1):39-49. 被引量:1
  • 10Sévin M,Lesca G,Baumann N,et al.The adult form of Niemann-Pick disease type C[J].Brain,2007,130 (Pt 1):120-133. 被引量:1

共引文献2

投稿分析

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部 意见反馈
新型冠状病毒肺炎防控与诊疗专栏