A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy
- PMID: 12566046
- DOI: 10.1016/s0002-9394(02)01929-3
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy
Abstract
Purpose: To report a novel mutation of the OPA1 gene in a Japanese patient with optic atrophy and to describe the clinical features of the patient.
Design: Observational case report.
Methods: Genomic DNA was extracted from leukocytes of four unrelated Japanese patients with optic atrophy. All the exons and splice sites of the OPA1 gene were amplified by polymerase chain reaction and directly sequenced.
Results: One patient with optic atrophy had a heterozygous Arg445His mutation in the OPA1 gene. The Arg445His mutation was detected neither in 110 control subjects nor in the patient's healthy family members.
Conclusions: A novel mutation of the OPA1 gene, similar to those reported in Western countries, was detected in a Japanese patient with optic atrophy. Mutations of the OPA1 gene may contribute to the development of optic nerve atrophy in Japanese cases of optic atrophy.
Similar articles
-
A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.Jpn J Ophthalmol. 2002 May-Jun;46(3):336-40. doi: 10.1016/s0021-5155(02)00484-7. Jpn J Ophthalmol. 2002. PMID: 12063046
-
Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.Ophthalmology. 2010 Feb;117(2):392-6.e1. doi: 10.1016/j.ophtha.2009.07.019. Epub 2009 Dec 6. Ophthalmology. 2010. PMID: 19969356
-
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.Am J Ophthalmol. 2003 Dec;136(6):1170-1. doi: 10.1016/s0002-9394(03)00665-2. Am J Ophthalmol. 2003. PMID: 14644237
-
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209. Epub 2016 May 4. Mol Med Rep. 2016. PMID: 27150940 Free PMC article. Review.
-
OPA1: How much do we know to approach therapy?Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Pharmacol Res. 2018. PMID: 29454676 Review.
Cited by
-
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. Am J Med Genet A. 2011. PMID: 21538838 Free PMC article.
-
Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy.Elife. 2024 Aug 23;12:RP87880. doi: 10.7554/eLife.87880. Elife. 2024. PMID: 39177028 Free PMC article.
-
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.Mol Vis. 2010 Jan 12;16:26-35. Mol Vis. 2010. PMID: 20069065 Free PMC article.
-
OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear.Histochem Cell Biol. 2007 Nov;128(5):421-30. doi: 10.1007/s00418-007-0321-7. Epub 2007 Sep 8. Histochem Cell Biol. 2007. PMID: 17828551
-
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.Ophthalmic Genet. 2018 Oct;39(5):569-576. doi: 10.1080/13816810.2018.1466337. Epub 2018 Jun 28. Ophthalmic Genet. 2018. PMID: 29952689 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
