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Ophthalmic Genetics Volume 38, 2017 - Issue 5
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Letters to the Journal

Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa

Imen HabibiInstitute for Research in Ophthalmology (IRO), Sion, Switzerland;Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia;Research Laboratory of Renal Transplantation and Immunopathology (LR03SP01), University Tunis El Manar, Immunology Laboratory, Tunis, Tunisia;Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, SwitzerlandView further author information
,
Ahmed ChebilResearch Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia;Faculty of Medicine, University Tunis El Manar, Tunis, TunisiaView further author information
,
Fedra KortResearch Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia;Faculty of Medicine, University Tunis El Manar, Tunis, TunisiaView further author information
,
Daniel F. SchorderetInstitute for Research in Ophthalmology (IRO), Sion, Switzerland;Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland;Jules-Gonin Eye Hospital, Faculty of Biology and Medicine, University of Lausanne, Lausanne, SwitzerlandCorrespondence[email protected]
View further author information
&
Leila El MatriResearch Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia;Faculty of Medicine, University Tunis El Manar, Tunis, TunisiaView further author information
Pages 494-497 | Published online: 17 Jan 2017

References

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  • Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011;12(11):745–755.
  • Züchner S, Dallman J, Wen R, et al. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet 2011;88(2):201–206.
  • Collin RW, Nikopoulos K, Dona M, et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci 2013;110(24):9856–9861.
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  • Myers S, Bowden R, Tumian A, et al. Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science 2010;327(5967):876–879.
  • Phillips JE, Corces VG. CTCF: master weaver of the genome. Cell 2009;137(7):1194–1211.
  • Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet 2015;24:4037–4038.
  • Gilmour D. Familial exudative vitreoretinopathy and related retinopathies. Eye 2015;29(1):1–14.

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