Open access
Jul 2026
Biallelic variants in IBA57 with multiple mitochondrial dysfunction syndrome 3
The compound heterozygous IBA57 mutations c.310G>T and c.826C>T lead to reduced IBA57 protein expression, selective impairment of respiratory chain complex II, and transcriptional dysregulation of the PI3K-Akt pathway, together contributing to the MMDS3 phenotype in the proband and the affected fetus.
Yi-Juan Huang, Chen-Yu Gou, Yuan-Qiu Chen et al.
· Frontiers in Genetics · 0 citations