Rhabdomyolysis and Metabolic Myopathy
Gene: OPA1
PMID: 21112924 - two siblings with gait difficulties due to a moderate spastic
pyramidal syndrome in 2nd decade of life. Diagnosed with Behr syndrome
PMID: 31152339 - 1 patient with weakness for elbow flexion and finger straddling, with reduced complex I, II and IV on muscle biopsy. Normal CK levels. Only visual/hearing impairments reported specifically in childhood. Authors note variants in exons 14-17 are mor frequently associated with ADOA plus
PMID: 26561570 - 1 family (two siblings) with infantile mitochondrial encephalomyopathy,
hypertrophic cardiomyopathy and optic atrophy. Patients were homozygous for a missense variant, inherited from unaffected parents. Reported truncal hypotonia, generalized hypotonia and significant muscle wasting at 2 months old.
PMID: 20157015 - a 1/104 patients reported with ADOA plus with myopathy in childhood. Additional patients also show myopathy but onset trended to be >30 years old.
Summary: paediatric myopathy reported but is a rare presentation
Sources: Expert listCreated: 22 Jun 2020, 12:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome 125250
Publications
OPA1 is associated with incomplete penetrance (PMID: 30165240).Created: 3 Feb 2020, 11:42 p.m. | Last Modified: 3 Feb 2020, 11:42 p.m.
Panel Version: 0.1220
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
1. ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 6168963; 2. {Glaucoma, normal tension, susceptibility to} 6066573; 3. Behr syndrome 210000 AR; 4. Optic atrophy 1 165500 AD; 5. Optic atrophy plus syndrome 125250 AD
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: opa1 has been classified as Green List (High Evidence).
Gene: opa1 has been classified as Green List (High Evidence).
gene: OPA1 was added gene: OPA1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OPA1 were set to 30165240; 20301426 Phenotypes for gene: OPA1 were set to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429