Have a personal or library account? Click to login
Genetic testing for optic atrophy Cover

References

  1. 1. Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews(R). Seattle (WA)1993.
  2. 2. Eiberg H, Kjer B, Kjer P, Rosenberg T. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet. 1994 Jun;3(6):977-80. PubMed PMID: 7951248.10.1093/hmg/3.6.9777951248
  3. 3. Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 2010 Mar;133(Pt 3):771-86. doi:10.1093/brain/awq007. Epub 2010 Feb 15. PubMed PMID: 20157015; PubMed Central PMCID: PMC2842512.
  4. 4 . Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissiere A, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24. PubMed PMID: 18158317.10.1093/brain/awm29818158317
  5. 5. Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, et al: Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008 Feb;131(Pt 2):329-37. Epub 2007 Dec 7. PubMed PMID: 18065439.10.1093/brain/awm27218065439
  6. 6. 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 Aug;117(8):1538-46, 1546.e1. doi: 10.1016/j.ophtha.2009.12.038. Epub 2010 Apr 24. PubMed PMID: 20417570; PubMed Central PMCID: PMC4040407.
  7. 7. 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 Sep;41(9):e110. PubMed PMID: 15342707; PubMed Central PMCID: PMC1735897.10.1136/jmg.2003.016576173589715342707
  8. 8. 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 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26. PubMed PMID: 19327736; PubMed Central PMCID: PMC2667974.
  9. 9. Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, et al. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24. PubMed PMID: 12036970.
  10. 10. Ferre M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 Novel OPA1 Mutations. Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025. PubMed PMID: 19319978.
  11. 11. Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, et al. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet. 2001 Jun 15;10(13):1369-78. PubMed PMID: 11440989.10.1093/hmg/10.13.136911440989
  12. 12. Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt- Sylla E, et al. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet. 2001 Jun 15;10(13):1359-68. PubMed PMID: 11440988.10.1093/hmg/10.13.135911440988
  13. 13. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep 2009 Jun 12; 58 (RR-6):1-37. PubMed PMID: 19521335.
  14. 14. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov;119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.10.1016/j.ophtha.2012.05.04722944025
Language: English
Page range: 83 - 85
Published on: Oct 27, 2017
Published by: European Biotechnology Thematic Network Association
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2017 Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Benedetto Falsini, Matteo Bertelli, published by European Biotechnology Thematic Network Association
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.