Genetic modifiers and non-Mendelian aspects of CMT.
Charcot-Marie-Tooth
Genetic modifiers
Multilocus
Non-mendelian inheritance
Journal
Brain research
ISSN: 1872-6240
Titre abrégé: Brain Res
Pays: Netherlands
ID NLM: 0045503
Informations de publication
Date de publication:
01 01 2020
01 01 2020
Historique:
received:
08
08
2019
revised:
04
09
2019
accepted:
12
09
2019
pubmed:
17
9
2019
medline:
30
3
2021
entrez:
17
9
2019
Statut:
ppublish
Résumé
Charcot-Marie-Tooth (CMT) neuropathies are amongst the most common inherited diseases in neurology. While great strides have been made to identify the genesis of these diseases, a diagnostic gap of 30-60% remains. Classic models of genetic causation may be limited to fully close this gap and, thus, we review the current state and future role of alternative, non-Mendelian forms of genetics in CMT. Promising synergies exist to further define the full genetic architecture of inherited neuropathies, including affordable whole-genome sequencing, increased data aggregation and clinical collaboration, improved bioinformatics and statistical methodology, and vastly improved computational resources. Given the recent advances in genetic therapies for rare diseases, it becomes a matter of urgency to diagnose CMT patients with great fidelity. Otherwise, they will not be able to benefit from such therapeutic options, or worse, suffer harm when pathogenicity of genetic variation is falsely evaluated. In addition, the newly identified modifier and risk genes may offer alternative targets for pharmacotherapy of inherited and, potentially, even acquired forms of neuropathies.
Identifiants
pubmed: 31525351
pii: S0006-8993(19)30513-X
doi: 10.1016/j.brainres.2019.146459
pmc: PMC6925904
mid: NIHMS1545650
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
146459Subventions
Organisme : NINDS NIH HHS
ID : R01 NS075764
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS105755
Pays : United States
Organisme : NCATS NIH HHS
ID : U2C TR002818
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS065712
Pays : United States
Informations de copyright
Copyright © 2019 Elsevier B.V. All rights reserved.
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