The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population

Weiyi Mu, Nicoline Schiess, Jennifer L. Orthmann-Murphy, Ayman W. El-Hattab

Research output: Contribution to journalArticle

Abstract

There is increasing evidence that whole exome sequencing (WES) has a high diagnostic yield and is cost-efficient for individuals with neurological phenotypes. However, there is limited data on the use of WES in non-Western populations, including populations with a high rate of consanguinity. Retrospective chart review was performed on 24 adults with undiagnosed neurological symptoms evaluated in genetics and neurology clinics in a tertiary care facility on the Arabian Peninsula, and had WES between 2014 and 2016. Definitive diagnoses were made in 13/24 (54%) of cases. Of these, 5/13 (38%) revealed novel pathogenic variants. Of the known 19/24 (79%) consanguineous cases, diagnostic rate was slightly higher, 11/19 (58%) as compared to 2/5 (40%) among non-consanguineous cases. Autosomal recessive disorders comprised 10/13 (77%) of molecular diagnoses, all found to be due to homozygous pathogenic variants among consanguineous cases. WES in this cohort of adults with neurological symptoms had a high diagnostic rate likely due to high consanguinity rates in this population, as evidenced by the high diagnostic rate of homozygous pathogenic variants.

Original languageEnglish (US)
JournalJournal of Neurogenetics
DOIs
StatePublished - Jan 1 2018

Keywords

  • APOPT1
  • consanguinity
  • KCNJ10
  • MEM70
  • MFN2
  • NSUN2
  • OPA1
  • PNKP
  • SLC12A6
  • Whole exome sequencing

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience

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