Screening of our in-house database of more than 10,000 WES datasets of individuals with non-mitochondrial disease revealed no additional individual with biallelic rare variants in C1QBP. Filtering for genes coding for mitochondrial proteins in probands S1–S3 revealed that C1QBP was the only gene with biallelic variants.34 This evidence concerns the gene C1QBP and mitochondrial disease.