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

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Research Abstract Details 

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Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Abstract Text:

Chunmei Li,Gregory Kosmorsky,Kang Zhang,Bradley J Katz,Jian Ge,Elias I Traboulsi,

Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, OPA1. We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in OPA1. The R445H mutation is the only OPA1 mutation that has been associated with this syndrome. In this manuscript, we clinically characterize an unrelated family with four members affected by optic atrophy and hearing loss without extraocular motility abnormalities or ptosis. This family also harbors the R445H mutation. These cases help illustrate the intra- and inter-family variability in phenotype associated with this mutation. As we continue to learn more about OPA1 and the function of its protein product, we will begin to understand the pathophysiology of optic atrophy. This understanding will ultimately lead to novel treatments directed toward preventing the visual loss and disability associated with this inherited disease.

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Publishing Authors By Initials

C Li,G Kosmorsky,K Zhang,BJ Katz,J Ge,EI Traboulsi,

For similar nervous system diseases: cranial nerve diseases: optic nerve diseases: optic atrophy: optic atrophies, hereditary: optic atrophy, autosomal dominant research abstracts see: nervous system diseases: cranial nerve diseases: optic nerve diseases: optic atrophy: optic atrophies, hereditary: optic atrophy, autosomal dominant research

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MEDLINE DATE:

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: American journal of medical genetics. Part A

VOLUME: 138

Page Numbers: 208-11

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 15

MONTH: Oct

YEAR: 2005

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

Number of References:

LANGUAGE: eng

NlmUniqueID: 101235741

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Keywords Mesh Terms:

KEYWORDS: Optic Atrophy, Autosomal Dominant

MESH TERMS: genetics

Chemical & Substance for Abstract: Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Information

Substance Name: OPA1 protein, human

Registry Number: EC 3.6.1.-

Grant and Affiliation Information for Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

AFFILIATION: Department of Ophthalmology and Visual Sciences, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA.

Country: United States

AGENCY: United States NEI

GRANT: R01 EY14448

ACRONYM: EY

MEDLINETA: Am J Med Genet A

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