Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features.
Leber hereditary optic neuropathy (LHON)
Maternal inheritance
Mitochondria
Optic atrophy
mtDNA
Journal
Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
18
12
2019
revised:
22
06
2020
accepted:
24
08
2020
pubmed:
31
8
2020
medline:
30
3
2021
entrez:
31
8
2020
Statut:
ppublish
Résumé
Leber hereditary optic neuropathy (LHON) is a neurodegenerative disorder characterised by bilateral, painless, subacute, central vision loss caused by pathogenic sequence variants in mitochondrial DNA (mtDNA). Over the course of 20 years, 734 people were systematically screened by our diagnostic laboratory for suspected LHON or for being at risk of LHON, with 98 found to harbour one of the three primary pathogenic mtDNA variants. Detection incidences were: 0.95% for NC_012920.1(MT-ND1):m.3460G>A; 9.4% for (MT-ND4):m.11778G>A; and 2.9% for (MT-ND6):m.14484T>C. The median age for symptomatic males was 27.3 years and for females 29.5 years, with a male to female ratio of 4.4:1 (62 males; 14 females). Most pathogenic variant carriers were propositi with the other individuals belonging to one of 14 pedigrees with noteworthy intra-family variability of clinical severity of the disease.
Identifiants
pubmed: 32861874
pii: S1567-7249(20)30176-8
doi: 10.1016/j.mito.2020.08.007
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
NADH dehydrogenase subunit 4
0
MT-ND6 protein, human
EC 1.6.99.3
NADH Dehydrogenase
EC 1.6.99.3
MT-ND1 protein, human
EC 7.1.1.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
128-132Informations de copyright
Copyright © 2020 Elsevier B.V. and Mitochondria Research Society. All rights reserved.