Yield of next-generation neuropathy gene panels in axonal neuropathies

Diana C. Lee, Lois Dankwa, Christyn Edmundson, David R. Cornblath, Steven S. Scherer

Research output: Contribution to journalArticle

Abstract

The use and utility of targeted gene panels for diagnosing the type of Charcot-Marie-Tooth have grown rapidly because commercial gene panels that contain most of the relevant genes are available and affordable for many patients. We used a targeted gene panel to analyze 175 patients who had an unexplained axonal polyneuropathy affecting large myelinated axons, 86 of whom reported a family history of neuropathy, and 89 of whom did not. In patients reporting a family history, the panel identified a pathogenic variant causing the neuropathy in six cases (7%); in patients not reporting a family history, the gene panel identified pathogenic variants causing neuropathy in two patients (2%). Interpretation in a tertiary referral setting, current gene panels identify the genetic cause of neuropathy in a small minority of patients who have an unexplained axonal neuropathy, even in those reporting a family history.

Original languageEnglish (US)
Pages (from-to)324-329
Number of pages6
JournalJournal of the Peripheral Nervous System
Volume24
Issue number4
DOIs
StatePublished - Dec 1 2019

Keywords

  • CMT
  • VUS
  • diagnosis
  • gene panel
  • neuropathy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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