| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
1 From the Ocular Molecular Genetics Institute and the 3 Berman–Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston; 2 Genetics Division, Children’s Hospital, Boston, Massachusetts.
PURPOSE. To assess the frequency of RPGR and RP2 mutations in a set of 85 patients with X-linked retinitis pigmentosa (XLRP) and to compare the visual function of patients with mutations in RPGR versus RP2.
METHODS. Eighty-five unrelated patients with XLRP were ascertained, mainly from North America. The single-strand conformation polymorphism (SSCP) and a direct sequencing technique were used to screen their DNA for mutations in the coding region and splice sites of RPGR and RP2. The Snellen visual acuities, visual field areas, and 0.5-Hz and 30-Hz electroretinograms (ERGs) were measured in male patients. The visual function parameters were compared using multiple regression analysis.
RESULTS. A wide spectrum of mutations was found in both genes, including missense, nonsense, splice-site, and frameshift mutations. Twenty putative pathogenic mutations in RPGR, 15 of which were novel, were found in 22 patients (26%), whereas 6 mutations in RP2, 4 of which were novel, were found in 6 patients (7%). A high fraction of the mutations in both genes affected amino acid residues within or adjacent to presumed functional domains. Comparison of visual function between comparably aged patients with mutations in RPGR versus RP2 showed that, on average, patients with RPGR mutations have lower ERG amplitudes and smaller visual field areas.
CONCLUSIONS. Mutations in RPGR and RP2 genes together account for approximately 33% of cases of XLRP in North America. Patients with RPGR mutations have less overall retinal function on average than those with RP2 mutations, on the basis of measurements of visual field areas and full-field ERG amplitudes.
This article has been cited by other articles:
|
|
 |
|
  T. S. Aleman, A. V. Cideciyan, A. Sumaroka, S. B. Schwartz, A. J. Roman, E. A. M. Windsor, J. D. Steinberg, K. Branham, M. Othman, A. Swaroop, et al. Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa with RPGR Mutations Invest. Ophthalmol. Vis. Sci., October 1, 2007; 48(10): 4759 - 4765. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. A. Sandberg, B. Rosner, C. Weigel-DiFranco, T. P. Dryja, and E. L. Berson Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations Invest. Ophthalmol. Vis. Sci., March 1, 2007; 48(3): 1298 - 1304. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Garcia-Hoyos, B. Garcia-Sandoval, D. Cantalapiedra, R. Riveiro, I. Lorda-Sanchez, M. J. Trujillo-Tiebas, M. Rodriguez de Alba, J. M. Millan, M. Baiget, C. Ramos, et al. Mutational Screening of the RP2 and RPGR Genes in Spanish Families with X-Linked Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci., September 1, 2006; 47(9): 3777 - 3782. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A Melamud, G-Q Shen, D Chung, Q Xi, E Simpson, L Li, N S Peachey, H Zegarra, S A Hagstrom, Q K Wang, et al. Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. J. Med. Genet., June 1, 2006; 43(6): e27 - e27. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S S Dandekar, N D Ebenezer, C Grayson, J P Chapple, C A Egan, G E Holder, S A Jenkins, F W Fitzke, M E Cheetham, A R Webster, et al. An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene Br. J. Ophthalmol., April 1, 2004; 88(4): 528 - 532. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D.-H. Hong, B. S. Pawlyk, M. Adamian, and T. Li Dominant, Gain-of-Function Mutant Produced by Truncation of RPGR Invest. Ophthalmol. Vis. Sci., January 1, 2004; 45(1): 36 - 41. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Bader, O. Brandau, H. Achatz, E. Apfelstedt-Sylla, M. Hergersberg, B. Lorenz, B. Wissinger, B. Wittwer, G. Rudolph, A. Meindl, et al. X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15 Invest. Ophthalmol. Vis. Sci., April 1, 2003; 44(4): 1458 - 1463. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Zhao, D.-H. Hong, B. Pawlyk, G. Yue, M. Adamian, M. Grynberg, A. Godzik, and T. Li The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis PNAS, April 1, 2003; 100(7): 3965 - 3970. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Grayson, F. Bartolini, J. P. Chapple, K. R. Willison, A. Bhamidipati, S. A. Lewis, P. J. Luthert, A. J. Hardcastle, N. J. Cowan, and M. E. Cheetham Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3 Hum. Mol. Genet., November 15, 2002; 11(24): 3065 - 3074. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D.-H. Hong and T. Li Complex Expression Pattern of RPGR Reveals a Role for Purine-Rich Exonic Splicing Enhancers Invest. Ophthalmol. Vis. Sci., November 1, 2002; 43(11): 3373 - 3382. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. P. Chapple, A. J. Hardcastle, C. Grayson, K. R. Willison, and M. E. Cheetham Delineation of the Plasma Membrane Targeting Domain of the X-Linked Retinitis Pigmentosa Protein RP2 Invest. Ophthalmol. Vis. Sci., June 1, 2002; 43(6): 2015 - 2020. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. Zhang, G. M. Acland, W. X. Wu, J. L. Johnson, S. Pearce-Kelling, B. Tulloch, R. Vervoort, A. F. Wright, and G. D. Aguirre Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration Hum. Mol. Genet., May 1, 2002; 11(9): 993 - 1003. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Bartolini, A. Bhamidipati, S. Thomas, U. Schwahn, S. A. Lewis, and N. J. Cowan Functional Overlap between Retinitis Pigmentosa 2 Protein and the Tubulin-specific Chaperone Cofactor C J. Biol. Chem., April 19, 2002; 277(17): 14629 - 14634. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Z. Yang, N. S. Peachey, D. M. Moshfeghi, S. Thirumalaichary, L. Chorich, Y. Y. Shugart, K. Fan, and K. Zhang Mutations in the RPGR gene cause X-linked cone dystrophy Hum. Mol. Genet., March 1, 2002; 11(5): 605 - 611. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
U. Schwahn, N. Paland, S. Techritz, S. Lenzner, and W. Berger Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein Hum. Mol. Genet., May 1, 2001; 10(11): 1177 - 1183. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
