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CEP290

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Retinal Dystrophy Gene Atlas

Abstract

CEP290 encodes a centrosomal protein involved in ciliary assembly and ciliary trafficking. Mutations are responsible for autosomal recessive Leber’s congenital amaurosis (LCA), Joubert syndrome, and Bardet-Biedl Syndrome [1–3].

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References

  1. den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006;79(3):556–61.

    Article  Google Scholar 

  2. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007;81(1):104–13.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  3. Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010;31(10):1097–108.

    Article  PubMed  CAS  Google Scholar 

  4. McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, et al. Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. JAMA Ophthalmol. 2013;131(2):178–82.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Chung DC, Traboulsi EI. Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. J AAPOS. 2009;13(6):587–92.

    Article  PubMed  Google Scholar 

  6. Waters AM, Beales PL. Bardet-Biedl syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews. Seattle: University of Washington; 1993.

    Google Scholar 

  7. Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008;40(4):443–8.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA

    Sarwar Zahid MS, MD, Kari Branham MS, CGC, Dana Schlegel MS, MPH, CGC, John Heckenlively MD & Thiran Jayasundera MD

  2. Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA

    Mark E. Pennesi MD, PhD

  3. Institute of Ophthalmology, Moorfields Eye Hospital UCL, London, UK

    Michel Michaelides MB, MD

Authors
  1. Sarwar Zahid MS, MD
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  2. Kari Branham MS, CGC
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  3. Dana Schlegel MS, MPH, CGC
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  4. Mark E. Pennesi MD, PhD
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  5. Michel Michaelides MB, MD
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  6. John Heckenlively MD
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  7. Thiran Jayasundera MD
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Zahid, S. et al. (2018). CEP290 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_15

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  • DOI: https://doi.org/10.1007/978-3-319-10867-4_15

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-10866-7

  • Online ISBN: 978-3-319-10867-4

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