Mitochondrial dynamics variation portal: the locus-specific databases portal of genes involved in mitochondrial dynamics
Pathogenic variants of the aconitase 2 gene (ACO2; MIM# 100850) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission.
Guehlouz, K. et al. ACO2 clinicobiological dataset with extensive phenotype ontology annotation. Scientific Data 8, https://doi.org/10.1038/s41597-021-00984-x (2021).
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1; OMIM# 132890) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS; MIM# 615722), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability.
Billiet, B. et al. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome. Hum Mutat, https://doi.org/10.1002/humu.24305 (2021).
Mutations in the optic atrophy 1 gene (OPA1; MIM# 605290) are responsible for about 60-80% of the cases of autosomal dominant optic atrophy (DOA, Kjer type; MIM# 165500; characterized by moderate to severe loss of visual acuity, blue-yellow dyschromatopsia and central scotoma). The spectrum of OPA1-related disorders is highly variable. The age of onset varies from birth to over 60 years, and the severity of the visual loss ranges from subclinical loss to severe blindness. Extra ocular features, involving the central, peripheral and autonomous nervous systems, complicating the optic neuropathy are reported in about 20% of the patients carrying OPA1 pathogenic variants, leading to conditions described as the "DOA plus" or "DOA+" syndromes (MIM# 125250). A phenotype fully compatible with the Behr syndrome (MIM# 210000), associating early onset and severe optic neuropathy with spinocerebellar ataxia and retarded development was also reported.
Ferre, M., Amati-Bonneau, P., Tourmen, Y., Malthiery, Y. & Reynier, P. eOPA1: an online database for OPA1 mutations. Hum Mutat 25, 423-428, https://doi.org/10.1002/humu.20161 (2005).
Ferre, M. et al. Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data. Hum Mutat 36, 20-25, https://doi.org/10.1002/humu.22703 (2015).
Le Roux, B. et al. OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. Orphanet journal of rare diseases 14, 214, https://doi.org/10.1186/s13023-019-1187-1 (2019).