Journal
HUMAN MUTATION
Volume 41, Issue 10, Pages 1745-1750Publisher
WILEY
DOI: 10.1002/humu.24081
Keywords
C1QBP; mitochondrial DNA; primary mitochondrial myopathy; progressive external ophthalmoplegia
Categories
Funding
- Fondazione Pierfranco e Luisa Mariani-Center for the Study of Mitochondrial Diseases [CM23]
- Ministero della Salute [RF-2016-02361495, RF-2016-02361241]
Ask authors/readers for more resources
Biallelic mutations in theC1QBPgene have been associated with mitochondrial cardiomyopathy and combined respiratory-chain deficiencies, with variable onset (including intrauterine or neonatal forms), phenotypes, and severity. We studied two unrelated adult patients from consanguineous families, presenting with progressive external ophthalmoplegia (PEO), mitochondrial myopathy, and without any heart involvement. Muscle biopsies from both patients showed typical mitochondrial alterations and the presence of multiple mitochondrial DNA deletions, whereas biochemical defects of the respiratory chain were present only in one subject. Using next-generation sequencing approaches, we identified homozygous mutations inC1QBP. Immunoblot analyses in patients' muscle samples revealed a strong reduction in the amount of the C1QBP protein and varied impairment of respiratory chain complexes, correlating with disease severity. Despite the original study indicatedC1QBPmutations as causative for mitochondrial cardiomyopathy, our data indicate that mutations inC1QBPhave to be considered in subjects with PEO phenotype or primary mitochondrial myopathy and without cardiomyopathy.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available