@article{ef17248b906a4d898ec9bd91ce16db62,
title = "Yield of next-generation neuropathy gene panels in axonal neuropathies",
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.",
keywords = "CMT, VUS, diagnosis, gene panel, neuropathy",
author = "Lee, {Diana C.} and Lois Dankwa and Christyn Edmundson and Cornblath, {David R.} and Scherer, {Steven S.}",
note = "Funding Information: This work was supported by the Inherited Neuropathy Consortium (INC), Rare Disease Clinical Research Consortium funded by the National Institutes of Health (NINDS/ORD) and the Judy Seltzer Levenson Memorial Fund for CMT Research. The INC (U54 NS065712) is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Rare Diseases Research (ORDR), NCATS, funded through a collaboration between NCATS and NINDS. We thank the patients for participating in our work, as well as Tanya Bardakjian and the Alnylam Act. Funding Information: This work was supported by the Inherited Neuropathy Consortium (INC), Rare Disease Clinical Research Consortium funded by the National Institutes of Health (NINDS/ORD) and the Judy Seltzer Levenson Memorial Fund for CMT Research. The INC (U54 NS065712) is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Rare Diseases Research (ORDR), NCATS, funded through a collaboration between NCATS and NINDS. We thank the patients for participating in our work, as well as Tanya Bardakjian and the Alnylam Act. Publisher Copyright: {\textcopyright} 2019 Peripheral Nerve Society",
year = "2019",
month = dec,
day = "1",
doi = "10.1111/jns.12356",
language = "English (US)",
volume = "24",
pages = "324--329",
journal = "Journal of the Peripheral Nervous System",
issn = "1085-9489",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "4",
}