No VSX1 gene mutations associated with keratoconus.
作者： Anthony J Aldave , Vivek S Yellore , Andrew K Salem , Gina L Yoo , Sylvia A Rayner
DOI: 10.1167/IOVS.05-1530
关键词: Keratoconus 、 Gene mutation 、 Single-nucleotide polymorphism 、 Genetics 、 Biology 、 Mutation 、 Cohort 、 Gene 、 Polymorphism (computer science) 、 Presumed Pathogenic
摘要: RESULTS. Of the four previously identified presumed pathogenic mutations in VSX1 gene (Leu17Pro, Asp144Glu, Leu159Met, and Arg166Trp), only Asp144Glu was a single affected patient. Two novel nucleotide polymorphisms (SNPs), both resulting synonymous substitutions, were identified: c.53GT (Ser6Ser) patients c.209GT (Pro58Pro) two patients. reported SNPs also c.426CA (Arg131Ser) one patient c.581AG (Ala182Ala) 51 of 100 CONCLUSIONS. Only gene, member cohort However, as demonstrated, is non‐disease-causing polymorphism. The absence large number unrelated KTCN indicates that other genetic factors are involved development this disorder. (Invest Ophthalmol Vis Sci. 2006;47:2820‐2822)
arvojournals.org
iovs.org参考文章(25)
Helen A Mintz-Hittner, Elena V Semina, Laura J Frishman, Thomas C Prager, Jeffrey C Murray, VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology. ,vol. 111, pp. 828- 836 ,(2004) , 10.1016/J.OPHTHA.2003.07.006
R. L. Chow, B. Volgyi, R. K. Szilard, D. Ng, C. McKerlie, S. A. Bloomfield, D. G. Birch, R. R. McInnes, Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1 Proceedings of the National Academy of Sciences of the United States of America. ,vol. 101, pp. 1754- 1759 ,(2004) , 10.1073/PNAS.0306520101
Yongming G Tang, Yaron S Rabinowitz, Kent D Taylor, Xiaohui Li, Mingshu Hu, Yoana Picornell, Huiying Yang, Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1 Genetics in Medicine. ,vol. 7, pp. 397- 405 ,(2005) , 10.1097/01.GIM.0000170772.41860.54
Elise Heon, Alex Greenberg, Kelly K Kopp, David Rootman, Andrea L Vincent, Gail Billingsley, Megan Priston, Kimberley M Dorval, Robert L Chow, Roderick R McInnes, Godfrey Heathcote, Carol Westall, John E Sutphin, Elena Semina, Rod Bremner, Edwin M Stone, VSX1: A gene for posterior polymorphous dystrophy and keratoconus Human Molecular Genetics. ,vol. 11, pp. 1029- 1036 ,(2002) , 10.1093/HMG/11.9.1029
C. Banu Cosar, M. S. Sridhar, Elisabeth J. Cohen, Evan L. Held, Paulo de Tarso S. Alvim, Christopher J. Rapuano, Irving M. Raber, Peter R. Laibson, Indications for penetrating keratoplasty and associated procedures, 1996-2000. Cornea. ,vol. 21, pp. 148- 151 ,(2002) , 10.1097/00003226-200203000-00003
Henna Tyynismaa, Henna Tyynismaa, Tiina Alitalo, Tiina Alitalo, Timo Tervo, Sari Tuupanen, Sari Tuupanen, Anja Dammert, Pertti Sistonen, Terho Latvala, A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Investigative Ophthalmology & Visual Science. ,vol. 43, pp. 3160- 3164 ,(2002)
Akihira Ohtoshi, Steven W Wang, Hidetaka Maeda, Shannon M Saszik, Laura J Frishman, William H Klein, Richard R Behringer, Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1. Current Biology. ,vol. 14, pp. 530- 536 ,(2004) , 10.1016/J.CUB.2004.02.027
Takaaki Hayashi, Jing Huang, Samir S. Deeb, RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina. Genomics. ,vol. 67, pp. 128- 139 ,(2000) , 10.1006/GENO.2000.6248
Jay H. Krachmer, Robert S. Feder, Michael W. Belin, Keratoconus and related noninflammatory corneal thinning disorders Survey of Ophthalmology. ,vol. 28, pp. 293- 322 ,(1984) , 10.1016/0039-6257(84)90094-8
Paul J. Driver, John W. Reed, Richard M. Davis, Familial cases of keratoconus associated with posterior polymorphous dystrophy. American Journal of Ophthalmology. ,vol. 118, pp. 256- 257 ,(1994) , 10.1016/S0002-9394(14)72911-3