Mutations in the OPA3 gene have been associated with different forms of optic atrophy. Autosomal dominant optic atrophy (ADOA) is characterized by progressive visual loss beginning in childhood, loss of visual acuity, and optic nerve pallor. Mutations in the gene OPA3 have been associated with ADOA and cataracts (ADOAC) . Type III 3-methylglutaconic aciduria (MGA; Costeff optic atrophy syndrome) is an autosomal recessive disorder characterized by early onset bilateral optic atrophy and later onset ataxia, spasticity, and cognitive decline. A hallmark of disease is increased urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. A founder OPA3 mutation accounts for the relatively high frequency of Type III MGA in the Iraqi Jewish population . Diagnostic sequencing analysis of the OPA3 gene coding region is available for patients with optic atrophy and their at risk family members. For further information call EGL Genetics at 470-378-2200.
1). Reynier, P., P. Amati-Bonneau, C. Verny, A. Olichon, G. Simard, A. Guichet, C. Bonnemains, F. Malecaze, M.C. Malinge, J.B. Pelletier, P. Calvas, H. Dollfus, P. Belenguer, Y. Malthiery, G. Lenaers, and D. Bonneau, OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet, 2004. 41(9): p. e110.
2). Anikster, Y., R. Kleta, A. Shaag, W.A. Gahl, and O. Elpeleg, Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet, 2001. 69(6): p. 1218-24.
- Clinical features associated with OPA3 gene mutations
- Prenatal testing after a familial mutation has been identified
- Testing for persons at risk for carrying a familial mutation
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
- OPA1 gene sequencing
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by sequencing.
- Prenatal testing is available to couples who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.