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Yield of next‐generation neuropathy gene panels in axonal neuropathies
Author(s) -
Lee Diana C.,
Dankwa Lois,
Edmundson Christyn,
Cornblath David R.,
Scherer Steven S.
Publication year - 2019
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12356
Subject(s) - family history , medicine , polyneuropathy , gene , referral , axonal degeneration , genetic testing , auditory neuropathy , bioinformatics , surgery , genetics , pathology , biology , audiology , family medicine , hearing loss
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.