COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
Nat Commun. 2026 May 30. doi: 10.1038/s41467-026-73455-9. Online ahead of print. ABSTRACT Primary mitochondrial diseases (PMDs) affect approximately 1 in 4300 individuals and cause early-onset neuromuscular and multisystem dysfunction with reduced lifespan. They result from pathogenic variants in mitochondrial or nuclear DNA that impair oxidative phosphorylation. Cytochrome c oxidase (COX; complex IV) deficiency is a […]
When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment
Trends Genet. 2026 Mar 31:S0168-9525(26)00038-7. doi: 10.1016/j.tig.2026.02.003. Online ahead of print. ABSTRACT The human ASXL gene family consists of ASXL1, ASXL2, and ASXL3, first described as the additional sex combs (Asx) in Drosophila. The encoded proteins scaffold BAP1-mediated histone H2A deubiquitination. ASXL genes are implicated in pre-cancerous, cancerous, and neurodevelopmental conditions. Truncating mutations predominate and […]
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement
Genet Med. 2026 Mar 16:102551. doi: 10.1016/j.gim.2026.102551. Online ahead of print. ABSTRACT PURPOSE: Biallelic DIAPH1 pathogenic variants cause a neurodevelopmental syndrome occasionally associated with immunodeficiency. This study aims to define the clinical and immunological spectrum of DIAPH1-related neuroimmunological syndrome and explore the gene’s developmental role using vertebrate models. METHODS: 53 individuals with biallelic DIAPH1 variants, […]