DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Jazyk angličtina Země Velká Británie, Anglie Médium print
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
35148383
PubMed Central
PMC9166554
DOI
10.1093/brain/awac052
PII: 6527177
Knihovny.cz E-zdroje
- Klíčová slova
- DNAJC30, LHON, Leigh syndrome, mitochondrial disease,
- MeSH
- dědičné atrofie optického nervu MeSH
- dítě MeSH
- dospělí MeSH
- Leberova atrofie zrakového nervu * genetika MeSH
- Leighova nemoc * genetika MeSH
- lidé MeSH
- mitochondriální DNA genetika MeSH
- mutace genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- mitochondriální DNA MeSH
The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum of Leigh syndrome, the most frequent paediatric mitochondrial disease. Herein, we characterize 28 so far unreported individuals from 26 families carrying a homozygous DNAJC30 p.Tyr51Cys founder variant, 24 manifesting with LHON, two manifesting with Leigh syndrome, and two remaining asymptomatic. This collection of unreported variant carriers confirms sex-dependent incomplete penetrance of the homozygous variant given a significant male predominance of disease and the report of asymptomatic homozygous variant carriers. The autosomal recessive LHON patients demonstrate an earlier age of disease onset and a higher rate of idebenone-treated and spontaneous recovery of vision in comparison to reported figures for maternally inherited disease. Moreover, the report of two additional patients with childhood- or adult-onset Leigh syndrome further evidences the association of DNAJC30 with Leigh syndrome, previously only reported in a single childhood-onset case.
Centre for Inherited Metabolic Diseases Karolinska University Hospital Stockholm Sweden
Department of Audiology and Phoniatrics The Children's Memorial Health Institute Warsaw Poland
Department of Diagnostic Imaging The Children's Memorial Health Institute Warsaw Poland
Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland
Department of Neuro Ophthalmology St Erik Eye Hospital Stockholm Sweden
Department of Paediatrics Metabolic Disease Center Klinikum Reutlingen Reutlingen Germany
Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases' Moscow Russia
Genetics and Metabolic Clinic St Luke's Health System Boise USA
German Center for Neurodegenerative Diseases Munich Germany
Institute of Human Genetics School of Medicine Technische Universität München München Germany
Institute of Neurogenomics Helmholtz Zentrum München München Germany
IRCCS Istituto delle Scienze Neurologiche di Bologna Programma di Neurogentica Bologna Italy
Munich Cluster of Systems Neurology Munich Germany
Research Centre for Medical Genetics Moscow Russia
Unit of Neurology Department of Biomedical and NeuroMotor Sciences University of Bologna Italy
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