Gene: OPA1

Alternate names for this Gene: BERHS|MGM1|MTDPS14|NPG|NTG|largeG

Gene Summary: The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness.

Gene is located in Chromosome: 3

Location in Chromosome : 3q29

Description of this Gene: OPA1 mitochondrial dynamin like GTPase

Type of Gene: protein-coding

rs879255594 in OPA1 gene and Behr syndrome PMID 21636302 2011 Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

PMID 25146916 2015 'Behr syndrome' with OPA1 compound heterozygote mutations.

PMID 25012220 2014 Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

rs528908640 in OPA1 gene and Diastolic blood pressure PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

rs794727804 in OPA1 gene and Dysmorphic features PMID 28841713 2017 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.

PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 14644237 2003 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

PMID 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

rs9838374 in OPA1 gene and Major Depressive Disorder PMID 27479909 2016 Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.

rs1553877864 in OPA1 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs80356529 in OPA1 gene and Movement Disorders PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

PMID 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.

PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PMID 28841713 2017 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PMID 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 14644237 2003 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

rs794727804 in OPA1 gene and Muscle hypotonia PMID 14644237 2003 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.

PMID 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.

PMID 28841713 2017 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PMID 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

rs387906900 in OPA1 gene and OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY PMID 21112924 2011 Heterozygous OPA1 mutations in Behr syndrome.

PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PMID 15531309 2004 Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

PMID 18158317 2008 OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

PMID 18065439 2008 Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

PMID 18195150 2008 Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

PMID 16240368 2005 OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

PMID 20185555 2010 OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.

PMID 21646330 2011 Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.

rs121908375 in OPA1 gene and Optic Atrophy 1 PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 18204809 2008 A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

PMID 16513463 2006 Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

PMID 12036970 2002 A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 11440988 2001 OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PMID 16617242 2006 OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

PMID 11810270 2001 Mutation spectrum and splicing variants in the OPA1 gene.

PMID 15948788 2005 Dominant optic atrophy: correlation between clinical and molecular genetic studies.

PMID 19969356 2010 Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.

PMID 11017080 2000 OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

PMID 11017079 2000 Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

PMID 22382025 2012 A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.

PMID 11440989 2001 Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

PMID 18360822 2008 Reversible optic neuropathy with OPA1 exon 5b mutation.

PMID 20185555 2010 OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.

PMID 19319978 2009 Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

PMID 23401657 2013 Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

PMID 19325939 2009 Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 23401657 2013 A 4-year-old boy with severe ocular phenotype was found to be compound heterozygous for two OPA1 mutations, a p.S64fs frameshift deletion and a p.V377I missense mutation, possibly implying an additive effect.