Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

American Journal of Ophthalmology
Edwin M Stone

Abstract

To critically evaluate our experience in molecular testing of Leber congenital amaurosis (LCA) and to use this information to devise a general approach to heterogeneous recessive disorders. Careful clinical and molecular characterization of large cohorts of patients affected with inherited eye diseases will be an essential step in the development of effective therapy for these diseases, especially when the therapy involves gene replacement. A molecular genetic case-control study. Six hundred forty-two unrelated individuals with the clinical diagnosis of LCA and 200 unrelated control individuals were screened for disease-causing sequence variations in eight genes using various combinations of single-strand conformational polymorphism analysis (SSCP), automated DNA sequencing, multiplex allele-specific ligation analysis (SNPlex), and high-density solid-phase single nucleotide polymorphism genotyping. Four hundred forty instances of 189 different disease-causing sequence variations were observed in this study, 98 of which have not been previously reported. One hundred forty-six of the 189 variations (77%) were observed in only a single individual. The observed variations were not evenly distributed among the LCA patients or among ...Continue Reading

References

Nov 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·S Henikoff, J G Henikoff
Jul 1, 1991·Analytical Biochemistry·B J BassamP M Gresshoff
Feb 1, 1988·Human Genetics·D N Cooper, H Youssoufian
Jan 1, 1982·The British Journal of Ophthalmology·J R Heckenlively
Nov 5, 1997·Nature Genetics·F MarlhensC P Hamel
Apr 18, 1998·Proceedings of the National Academy of Sciences of the United States of America·H MorimuraT P Dryja
Oct 3, 1999·Nature Genetics·A I den HollanderA A Bergen
Oct 21, 1999·Molecular Genetics and Metabolism·I PerraultJ Kaplan
Apr 15, 2000·Archives of Ophthalmology·A J LoteryE M Stone
Jun 30, 2000·Molecular Genetics and Metabolism·M M SohockiS P Daiger
Aug 22, 2000·European Journal of Human Genetics : EJHG·I PerraultJ Kaplan
Feb 22, 2001·Science·J C VenterX Zhu
Mar 20, 2001·Archives of Ophthalmology·A J LoteryE M Stone
Mar 10, 2001·Nature·E S LanderUNKNOWN International Human Genome Sequencing Consortium
Apr 3, 2001·American Journal of Human Genetics·T P DryjaE L Berson
Jan 23, 2003·Microscopy Research and Technique·Toshiaki Sano, Hidehisa Horiguchi
Apr 18, 2003·Human Molecular Genetics·Samuel G JacobsonEdwin M Stone
Jun 20, 2003·Lancet·Russell R LonserEdward H Oldfield
Aug 16, 2003·Journal of Medical Genetics·A HameedS Khaliq
Feb 14, 2004·American Journal of Ophthalmology·Kholoud Al-KhayerElias I Traboulsi
Mar 24, 2004·Investigative Ophthalmology & Visual Science·Tomas S AlemanArtur V Cideciyan
Jun 11, 2004·Human Molecular Genetics·Tatsuhiko TsunodaYusuke Nakamura
Jul 14, 2004·Archives of Ophthalmology·Sharola DharmarajIrene H Maumenee
Aug 24, 2004·American Journal of Human Genetics·Isabelle PerraultJean-Michel Rozet
Oct 2, 2004·Human Mutation·Anneke I den HollanderFrans P M Cremers
Oct 22, 2004·Nature·UNKNOWN International Human Genome Sequencing Consortium
Oct 6, 2005·Retina·Jennifer A GalvinRobert K Koenekoop
Oct 18, 2005·Molecular Therapy : the Journal of the American Society of Gene Therapy·Gregory M AclandSamuel G Jacobson

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Citations

Dec 15, 2010·Archives of Ophthalmology·Audrey C KoEdwin M Stone
Nov 9, 2011·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Keiko MiyaderaGustavo D Aguirre
May 31, 2012·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Robert B HufnagelRobert A Sisk
Jan 21, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Frauke CoppietersElfride De Baere
Aug 13, 2010·Gene Therapy·M J AnnearS M Petersen-Jones
Jul 31, 2012·Nature Genetics·Marni J FalkEric A Pierce
Jul 22, 2010·Human Molecular Genetics·Emily I SchindlerEdwin M Stone
Jul 31, 2012·Human Molecular Genetics·Alejandro Estrada-CuzcanoDorus A Mans
Jul 9, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·William J KimberlingRichard J H Smith
Jun 20, 2013·Investigative Ophthalmology & Visual Science·Charles B WrightJohn M Nickerson
May 25, 2011·The Journal of Clinical Investigation·Manzar AshtariJean Bennett
May 25, 2011·The Journal of Clinical Investigation·José-Alain Sahel
Jul 21, 2012·Biomedical Engineering Online·Paolo MelilloFrancesca Simonelli
May 17, 2011·Middle East African Journal of Ophthalmology·Luis A R Gabriel, Elias I Traboulsi
Feb 11, 2014·Progress in Retinal and Eye Research·Celso Henrique AlvesJan Wijnholds
Mar 15, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Frauke CoppietersElfride De Baere
May 27, 2014·Progress in Retinal and Eye Research·Susanne RoosingFrans P M Cremers
Aug 7, 2014·Japanese Journal of Ophthalmology·Takahide SuzukiAkira Murakami
Jan 22, 2010·Journal of Genetics·Elias I Traboulsi
Jan 22, 2010·Journal of Genetics·Hiroshi TomitaMakoto Tamai
Feb 18, 2016·BioDrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy·Kerstin Nagel-WolfrumUwe Wolfrum
Feb 9, 2011·Expert Opinion on Biological Therapy·Linda SteinShalesh Kaushal
Sep 11, 2012·Biochemical and Biophysical Research Communications·Li HuangQingjiong Zhang
Feb 9, 2013·Science China. Life Sciences·Jacques ZaneveldRui Chen
Apr 20, 2010·Progress in Retinal and Eye Research·Artur V Cideciyan
Jan 28, 2010·American Journal of Ophthalmology·Arlene V DrackEdwin M Stone

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