Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%-Reference-Cited by-同舟云学术

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Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

Published:2012-08-02 Issue:1 Volume:13 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Almind Gitte J,Ek Jakob,Rosenberg Thomas,Eiberg Hans,Larsen Michael,LuCamp LuCamp,Brøndum-Nielsen Karen,Grønskov Karen

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-13-65.pdf

Reference22 articles.

1. Kjer B, Eiberg H, Kjer P, Rosenberg T: Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996, 74: 3-7.

2. Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, et al: The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology. 2010, 117: 1538-46. 10.1016/j.ophtha.2009.12.038. 1546

3. Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, et al: OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004, 41: e110-10.1136/jmg.2003.016576.

4. Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, et al: TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet. 2009, 84: 493-498. 10.1016/j.ajhg.2009.03.003.

5. Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, et al: A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. Hum Mol Genet. 2011, 20: 1893-1905. 10.1093/hmg/ddr071.

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