Xiang Ma1, Xiaoxin Li, Lihua Wang. 1. Eye Center of Peking University, People's Hospital, Peking University, Beijing, People's Republic of China.
Abstract
PURPOSE: To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS). METHODS: Genomic DNA was isolated from leukocytes of 29 male patients with X-linked juvenile retinoschisis, 38 female carriers, and 100 normal controls. All 6 exons of the RS1 gene were amplified by polymerase chain reaction, and the RS1 gene mutations were determined by direct sequencing. RESULTS: Eleven different RS1 mutations in 12 families were identified in the 29 male patients. The mutations comprised eight missense, two frameshift, and one splice donor site mutation. Four of these mutations, one frameshift mutation (26 del T) in exon 1, one frameshift mutation (488 del G) in exon 5, Asp145His and Arg156Gly in exon 5, have not been previously described. One novel non-disease-related polymorphism, 576C to T (Pro192Pro) in exon 6, was also found. Six recurrent mutations, Ser73Pro and Arg102Gln mutations in exon 4 and Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg mutations in exon 6, were also identified in this study. CONCLUSION: RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.
PURPOSE: To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS). METHODS: Genomic DNA was isolated from leukocytes of 29 male patients with X-linked juvenile retinoschisis, 38 female carriers, and 100 normal controls. All 6 exons of the RS1 gene were amplified by polymerase chain reaction, and the RS1 gene mutations were determined by direct sequencing. RESULTS: Eleven different RS1 mutations in 12 families were identified in the 29 male patients. The mutations comprised eight missense, two frameshift, and one splice donor site mutation. Four of these mutations, one frameshift mutation (26 del T) in exon 1, one frameshift mutation (488 del G) in exon 5, Asp145His and Arg156Gly in exon 5, have not been previously described. One novel non-disease-related polymorphism, 576C to T (Pro192Pro) in exon 6, was also found. Six recurrent mutations, Ser73Pro and Arg102Gln mutations in exon 4 and Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg mutations in exon 6, were also identified in this study. CONCLUSION:RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.
Authors: Y Inoue; S Yamamoto; M Okada; M Tsujikawa; T Inoue; A A Okada; S Kusaka; Y Saito; K Wakabayashi; Y Miyake; T Fujikado; Y Tano Journal: Arch Ophthalmol Date: 2000-01
Authors: C G Sauer; A Gehrig; R Warneke-Wittstock; A Marquardt; C C Ewing; A Gibson; B Lorenz; B Jurklies; B H Weber Journal: Nat Genet Date: 1997-10 Impact factor: 38.330
Authors: Y Hotta; K Fujiki; M Hayakawa; T Ohta; T Fujimaki; K Tamaki; T Yokoyama; A Kanai; A Hirakata; T Hida; S Nishina; N Azuma Journal: Hum Genet Date: 1998-08 Impact factor: 4.132
Authors: Jacque L Duncan; Kavitha Ratnam; David G Birch; Sanna M Sundquist; Anna S Lucero; Yuhua Zhang; Meira Meltzer; Nizar Smaoui; Austin Roorda Journal: Invest Ophthalmol Vis Sci Date: 2011-12-20 Impact factor: 4.799
Authors: Jun Xu; Hong Gu; Kai Ma; Xipu Liu; Torkel Snellingen; Erdan Sun; Ningli Wang; Ningpu Liu Journal: Mol Vis Date: 2010-08-12 Impact factor: 2.367
Authors: Gökhan Tolun; Camasamudram Vijayasarathy; Rick Huang; Yong Zeng; Yan Li; Alasdair C Steven; Paul A Sieving; J Bernard Heymann Journal: Proc Natl Acad Sci U S A Date: 2016-04-25 Impact factor: 11.205