Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

Autor: Panagiotou, ES, Fernandez-Fuentes, N, Farraj, LA, McKibbin, M, Elcioglu, NH, Jafri, H, Cerman, E, Parry, DA, Logan, CV, Johnson, CA, Inglehearn, CF, Toomes, C, Ali, M

Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::3c7fbbb744aa1a97dfa0a70f66a12980

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Autor: Hardcastle AJ; UCL Institute of Ophthalmology, London, UK. a.hardcastle@ucl.ac.uk.; Moorfields Eye Hospital, NHS Foundation Trust, London, UK. a.hardcastle@ucl.ac.uk., Liskova P; UCL Institute of Ophthalmology, London, UK.; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Bykhovskaya Y; The Cornea Eye Institute, Beverly Hills, CA, USA.; Department of Surgery and Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., McComish BJ; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Davidson AE; UCL Institute of Ophthalmology, London, UK., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Li X; Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA., Choquet H; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA., Habeeb M; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center GD, Rotterdam, The Netherlands., Lucas SEM; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Sahebjada S; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia., Pontikos N; UCL Institute of Ophthalmology, London, UK., Lopez KER; UCL Institute of Ophthalmology, London, UK., Khawaja AP; UCL Institute of Ophthalmology, London, UK.; Moorfields Eye Hospital, NHS Foundation Trust, London, UK.; NIHR Biomedical Research Centre, Moorfields Eye Hospital, London, UK., Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Skalicka P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Van Dooren BTH; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands.; Amphia Hospital, Breda, The Netherlands., Geerards AJM; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Haudum CW; Division of Endocrinology and Diabetology, Endocrinology Lab Platform, Department of Internal Medicine, Medical University of Graz, Graz, Austria., Faro VL; Department of Ophthalmology, University Medical Center Groningen (UMCG), Groningen, the Netherlands.; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands., Tenen A; Vision Eye Institute, Melbourne, VIC, Australia.; School of Primary and Allied Health Care, Monash University, Melbourne, VIC, Australia.; Melbourne Stem Cell Centre, Melbourne, VIC, 3800, Australia., Simcoe MJ; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Patasova K; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Yarrand D; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Yin J; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA., Siddiqui S; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Department of Ophthalmology, St James's University Hospital, Leeds, UK., Rice A; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Farraj LA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Chen YI; Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA., Rahi JS; UCL Great Ormond Street Hospital Institute of Child Health, London, UK., Krauss RM; Oakland Research Institute, Oakland, CA, USA., Theusch E; Oakland Research Institute, Oakland, CA, USA., Charlesworth JC; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Szczotka-Flynn L; Department of Ophthalmology, Case Western Reserve University, Cleveland, OH, USA., Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Meester-Smoor MA; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center GD, Rotterdam, The Netherlands., Richardson AJ; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia., Mitchell PA; Centre for Vision Research, Department of Ophthalmology, Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia., Taylor KD; Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA., Melles RB; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA., Aldave AJ; The Jules Stein Institute, University of California Los Angeles, Los Angeles, CA, USA., Mills RA; Department of Ophthalmology, Flinders University, Adelaide, SA, Australia., Cao K; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia., Chan E; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia., Daniell MD; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia., Wang JJ; Health Services and Systems Research, Duke-NUS Medical School, Singapore, Singapore., Rotter JI; Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA., Hewitt AW; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Vision Eye Institute, Melbourne, VIC, Australia.; School of Primary and Allied Health Care, Monash University, Melbourne, VIC, Australia.; Melbourne Stem Cell Centre, Melbourne, VIC, 3800, Australia., MacGregor S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Klaver CCW; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center GD, Rotterdam, The Netherlands., Ramdas WD; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands., Craig JE; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Department of Ophthalmology, Flinders University, Adelaide, SA, Australia., Iyengar SK; Department of Ophthalmology, Case Western Reserve University, Cleveland, OH, USA., O'Brart D; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.; St Thomas Hospital, Guy's and St. Thomas NHS Trust, London, London, UK., Jorgenson E; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA., Baird PN; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia., Rabinowitz YS; The Cornea Eye Institute, Beverly Hills, CA, USA.; Department of Surgery and Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Burdon KP; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Department of Ophthalmology, Flinders University, Adelaide, SA, Australia., Hammond CJ; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.; St Thomas Hospital, Guy's and St. Thomas NHS Trust, London, London, UK., Tuft SJ; UCL Institute of Ophthalmology, London, UK. s.tuft@ucl.ac.uk.; Moorfields Eye Hospital, NHS Foundation Trust, London, UK. s.tuft@ucl.ac.uk., Hysi PG; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK. pirro.hysi@kcl.ac.uk.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. pirro.hysi@kcl.ac.uk.; UCL Great Ormond Street Hospital Institute of Child Health, London, UK. pirro.hysi@kcl.ac.uk.

Publikováno v: Communications biology [Commun Biol] 2021 Mar 01; Vol. 4 (1), pp. 266. Date of Electronic Publication: 2021 Mar 01.