一种新的杂合剪接位点OPA1突变导致日本显性遗传性视神经萎缩患者第10外显子跳跃。 - Suppr

A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.

作者信息

Iida Kie, Ohkuma Yasuhiro, Hayashi Takaaki, Katagiri Satoshi, Fujita Takeshi, Tsunoda Kazushige, Yamada Hisashi, Tsuneoka Hiroshi

机构信息

a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.

b Department of Ophthalmology , Kanagawa Children's Medical Center , Yokohama , Japan.

出版信息

Ophthalmic Genet. 2016 Sep;37(3):354-6. doi: 10.3109/13816810.2015.1066829. Epub 2016 Feb 8.

DOI:10.3109/13816810.2015.1066829

PMID:26854526

Abstract

摘要

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A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.

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Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.

J Fr Ophtalmol. 2020 Mar;43(3):e107-e108. doi: 10.1016/j.jfo.2019.08.008. Epub 2020 Jan 20.

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引用本文的文献

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.

Eye (Lond). 2023 Mar;37(4):624-630. doi: 10.1038/s41433-022-01990-y. Epub 2022 Mar 10.

Autosomal dominant optic atrophy with gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

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A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.

作者信息

Iida Kie, Ohkuma Yasuhiro, Hayashi Takaaki, Katagiri Satoshi, Fujita Takeshi, Tsunoda Kazushige, Yamada Hisashi, Tsuneoka Hiroshi

机构信息

a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.

b Department of Ophthalmology , Kanagawa Children's Medical Center , Yokohama , Japan.

出版信息

Ophthalmic Genet. 2016 Sep;37(3):354-6. doi: 10.3109/13816810.2015.1066829. Epub 2016 Feb 8.

DOI:10.3109/13816810.2015.1066829

PMID:26854526

Abstract

摘要

相似文献

A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.

Ophthalmic Genet. 2016 Sep;37(3):354-6. doi: 10.3109/13816810.2015.1066829. Epub 2016 Feb 8.

A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.

Graefes Arch Clin Exp Ophthalmol. 2007 Oct;245(10):1581-3. doi: 10.1007/s00417-007-0598-1. Epub 2007 Jun 20.

Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.

Ophthalmic Res. 2005 Jul-Aug;37(4):214-24. doi: 10.1159/000086862. Epub 2005 Jul 5.

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.

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

Am J Ophthalmol. 2003 Feb;135(2):256-7. doi: 10.1016/s0002-9394(02)01929-3.

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.

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

Mol Vis. 2008;14:2451-7. Epub 2008 Dec 29.

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

BMC Med Genet. 2017 Feb 28;18(1):22. doi: 10.1186/s12881-017-0383-x.

Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.

J Fr Ophtalmol. 2020 Mar;43(3):e107-e108. doi: 10.1016/j.jfo.2019.08.008. Epub 2020 Jan 20.

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

Jpn J Ophthalmol. 2012 Jan;56(1):91-7. doi: 10.1007/s10384-011-0096-1. Epub 2011 Nov 1.

引用本文的文献

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.

Eye (Lond). 2023 Mar;37(4):624-630. doi: 10.1038/s41433-022-01990-y. Epub 2022 Mar 10.

Autosomal dominant optic atrophy with gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019.

A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.

作者信息

机构信息

出版信息

相似文献

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A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.

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