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 journalArticlepeer-review

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)
Pages (from-to)21-26
Number of pages6
JournalJournal of Neurogenetics
Volume33
Issue number1
DOIs
StatePublished - Jan 2 2019

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience

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