Home
Deutsch
Advanced Search
Browse by ...
Publication overview
Contact persons
Help
Postprint
DOI
PMC
 |
Open Access Green |
as soon as is submitted to ZB.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Hum. Mutat. 42, 699-710 (2021)
Isolated biochemical deficiency of mitochondrial complex I is the most frequent signature amongst mitochondrial diseases and is associated with a wide variety of clinical symptoms. Leigh syndrome represents the most frequent neuroradiological finding in patients with complex I defect and >80 monogenic causes have been involved in the disease. In this report, we describe 7 patients from four unrelated families harbouring novel NDUFA12 variants, 6 of them presenting with Leigh syndrome. Molecular genetic characterization was performed using next generation sequencing combined with the Sanger method. Biochemical and protein studies were achieved by enzymatic activities, blue native gel electrophoresis and Western blotting. All patients displayed novel homozygous mutations in the NDUFA12 gene leading to the virtual absence of the corresponding protein. Surprisingly, despite in none of the analyzed patients NDUFA12 protein was detected, they present a different onset and clinical course of the disease. Our report expands the array of genetic alterations in NDUFA12 and underlines phenotype variability associated with NDUFA12 defect.
Altmetric
Additional Metrics?
Edit extra informations
Login
Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Leigh Syndrome ; Nadh Ubiquinone Oxidoreductase ; Ndufa12 ; Mitochondrial Disease
ISSN (print) / ISBN
1059-7794
e-ISSN
1098-1004
Journal
Human Mutation
Quellenangaben
Volume: 42,
Issue: 6,
Pages: 699-710
Publisher
Wiley
Publishing Place
111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
E-Rare
Ministero della Salute
Ministero della Salute