Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
07 01 2020
07 01 2020
Historique:
received:
14
03
2019
accepted:
24
06
2019
pubmed:
13
12
2019
medline:
24
3
2020
entrez:
13
12
2019
Statut:
ppublish
Résumé
To investigate the effectiveness of targeted next-generation sequencing (NGS) panels in achieving a molecular diagnosis in Charcot-Marie-Tooth disease (CMT) and related disorders in a clinical setting. We prospectively enrolled 220 patients from 2 tertiary referral centers, one in London, United Kingdom (n = 120), and one in Iowa (n = 100), in whom a targeted CMT NGS panel had been requested as a diagnostic test. After targeted NGS sequencing, a definite molecular diagnosis, defined as a pathogenic or likely pathogenic variant, was reached in 30% of cases (n = 67). The diagnostic rate was similar in London (32%) and Iowa (29%). Variants of unknown significance were found in an additional 33% of cases. Mutations in NGS panels are effective tools in the diagnosis of CMT, leading to genetic confirmation in one-third of cases negative for
Identifiants
pubmed: 31827005
pii: WNL.0000000000008672
doi: 10.1212/WNL.0000000000008672
pmc: PMC7011687
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e51-e61Subventions
Organisme : Medical Research Council
ID : G108/638
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T001712/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0802760
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1001253
Pays : United Kingdom
Organisme : The Dunhill Medical Trust
ID : R605/0717
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S01165X/1
Pays : United Kingdom
Commentaires et corrections
Type : ErratumIn
Type : ErratumIn
Informations de copyright
Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
Références
J Neurol. 2014 May;261(5):970-82
pubmed: 24627108
Neuron. 2011 Oct 20;72(2):257-68
pubmed: 21944779
Cell Rep. 2015 Aug 18;12(7):1169-83
pubmed: 26257172
J Peripher Nerv Syst. 2016 Mar;21(1):52-4
pubmed: 26930221
J Peripher Nerv Syst. 2011 Sep;16(3):191-8
pubmed: 22003934
Mol Genet Genomic Med. 2015 Mar;3(2):143-54
pubmed: 25802885
Clin Genet. 2011 Oct;80(4):334-45
pubmed: 21291453
Curr Genomics. 2018 Sep;19(6):412-419
pubmed: 30258273
Neurology. 2017 Apr 11;88(15):1445-1453
pubmed: 28283593
J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8
pubmed: 25430934
Handb Clin Neurol. 2018;148:653-665
pubmed: 29478606
Orphanet J Rare Dis. 2016 Aug 22;11(1):118
pubmed: 27549087
Neurology. 2016 May 10;86(19):1762-71
pubmed: 27164712
J Neurochem. 2017 Dec;143(5):507-522
pubmed: 28902413
J Peripher Nerv Syst. 2016 Sep;21(3):142-9
pubmed: 27231023
J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):195-202
pubmed: 30257968
Neurology. 2017 Aug 29;89(9):927-935
pubmed: 28768847
Neuromuscul Disord. 2018 Dec;28(12):1012-1015
pubmed: 30385095
J Mol Diagn. 2016 Mar;18(2):225-34
pubmed: 26752306
Mol Cells. 2016 May 31;39(5):382-8
pubmed: 27025386
Neuron. 2011 Oct 20;72(2):245-56
pubmed: 21944778
BMC Med Genet. 2015 Sep 21;16:84
pubmed: 26392352
Curr Opin Neurol. 2016 Oct;29(5):537-48
pubmed: 27584852
Nat Genet. 2018 Apr;50(4):581-590
pubmed: 29507423
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nat Genet. 2019 Apr;51(4):649-658
pubmed: 30926972
Ann Neurol. 2011 Jan;69(1):22-33
pubmed: 21280073
Biomed Res Int. 2014;2014:210401
pubmed: 25025039
Mol Genet Genomic Med. 2018 May;6(3):422-433
pubmed: 29573232
Eur J Hum Genet. 2014 Apr;22(4):522-7
pubmed: 23963299
J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10
pubmed: 22577229
Eur J Med Genet. 2019 Jan;62(1):1-8
pubmed: 29653220
Hum Mutat. 2012 Nov;33(11):1610-5
pubmed: 22730194
Biomed Res Int. 2015;2015:314651
pubmed: 26558264
Neuromuscul Disord. 2009 Apr;19(4):264-9
pubmed: 19272779