Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders

Zhao Chen, Jun ling Wang, Bei sha Tang, Zhan fang Sun, Yu ting Shi, Lu Shen, Li fang Lei, Xiao ming Wei, Jing jing Xiao, Zheng mao Hu, Qian Pan, Kun Xia, Qing yan Zhang, Mei zhi Dai, Yu Liu, Tetsuo Ashizawa, Hong Jiang

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene sequencing. Whole-exome sequencing was used to investigate 3 affected individuals with Joubert syndrome, nemaline myopathy, or spastic ataxia Charlevoix-Saguenay type. A list of known and novel candidate variants was identified for each causative gene. All variants were genetically verified by Sanger sequencing or quantitative polymerase chain reaction with the strategy of disease segregation in related pedigrees and healthy controls. The advantages of using next-generation sequencing to diagnose rare autosomal recessive neurologic Mendelian disorders characterized by genetic and phenotypic heterogeneity are demonstrated. A genetic diagnostic strategy combining the use of targeted gene sequencing and whole-exome sequencing with the aid of next-generation sequencing platforms has shown great promise for improving the diagnosis of neurologic Mendelian disorders.

Original languageEnglish (US)
Pages (from-to)2442.e11-2442.e17
JournalNeurobiology of Aging
Volume34
Issue number10
DOIs
StatePublished - Oct 2013

Keywords

  • Autosomal recessive
  • Exome sequencing
  • Genetic diagnostic strategy
  • Neurologic Mendelian disorders
  • Targeted gene sequencing

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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