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Ophthalmic Genetics Volume 39, 2018 - Issue 1
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Letters to the Journal

On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness

Laura BryantCenter for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA;Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USAView further author information
,
Olga LozynskaCenter for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA;Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USAView further author information
,
Grace HanCenter for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA;Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USAView further author information
,
Jessica I. W. MorganCenter for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA;Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USAView further author information
,
Xiaowu GaiDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USAView further author information
,
Albert M. MaguireCenter for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA;Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USAView further author information
,
Tomas AlemanCenter for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA;Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USAView further author information
&
Jean BennettCenter for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA;Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USACorrespondence[email protected]
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Pages 144-146 | Received 09 Mar 2017, Accepted 07 Jul 2017, Published online: 14 Aug 2017

References

  • Abid A, Ismail M, Mehdi SQ, Khaliq S. Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. J Med Genet. 2006;43(4):378–81. doi:10.1136/jmg.2005.035055.
  • Nojima S, Toyofuku T, Kamao H, Ishigami C, Kaneko J, Okuno T, Takamatsu H, Ito D, Kang S, Kimura T, et al. A point mutation in semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration. Nat Commun. 2013;4:1406. doi:10.1038/ncomms2420.
  • Tsuruma K, Nishimura Y, Kishi S, Shimazawa M, Tanaka T, Hara H. SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells. Invest Ophthalmol Vis Sci. 2012;53(10):6729–37. doi:10.1167/iovs.11-9378.

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