| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
Investigative Ophthalmology & Visual Science, Vol 38, 1972-1982, Copyright © 1997 by Association for Research in Vision and Ophthalmology
ARTICLES AND REPORTS |
TP Dryja, LB Hahn, K Kajiwara and EL Berson
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
PURPOSE: To measure the proportion of cases of retinitis pigmentosa (RP) caused by mutations in the peripherin/RDS (RDS) and ROM1 genes. METHODS: The single-strand conformation polymorphism (SSCP) method was used to analyze 227 unrelated patients with dominant or recessive RP for mutations in the RDS gene and an overlapping set of 315 unrelated patients for mutations in the ROM1 gene (excluding patients with other known RP genes). Variant bands revealed by SSCP were studied further by polymerase chain reaction-based, direct genomic sequencing and, where possible, by cosegregation analysis in the families of the index cases. RESULTS: Four index patients were found to have RP as a result of one of four dominant mutations in the RDS gene, two of which are novel. Four other index patients were found to have digenic RP as a result of the combination of heterozygous mutations in both the RDS and the ROM1 gene, with one of the ROM1 mutations being novel. The digenic cases all had the same RDS mutation (the missense change Leu185Pro), but each had one of three different ROM1 mutations. The authors were unable to determine through cosegregation analysis whether three other changes encountered in the RDS gene and five in the ROM1 gene were pathogenic. CONCLUSIONS: The authors found mutations in the RDS gene as a cause of dominant or digenic RP and mutations in the ROM1 gene as a cause of digenic RP. No cases of RP caused by ROM1 mutations alone have been discovered thus far. Mutations in the RDS and ROM1 genes are infrequent causes of RP, together accounting for only a few percent of patients in the United States and Canada.
This article has been cited by other articles:
|
|
 |
|
  J. H. Fingert, K. Oh, M. Chung, T. E. Scheetz, J. L. Andorf, R. M. Johnson, V. C. Sheffield, and E. M. Stone Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa Arch Ophthalmol, September 1, 2008; 126(9): 1301 - 1307. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. F. X. Goldberg, L. M. Ritter, N. Khattree, N. S. Peachey, R. N. Fariss, L. Dang, M. Yu, and A. R. Bottrell An Intramembrane Glutamic Acid Governs Peripherin/rds Function for Photoreceptor Disk Morphogenesis Invest. Ophthalmol. Vis. Sci., July 1, 2007; 48(7): 2975 - 2986. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B P Leroy, A Kailasanathan, J-J De Laey, G C M Black, and F D C Manson Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa Br. J. Ophthalmol., January 1, 2007; 91(1): 89 - 93. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. A. Zariwala, M. W. Leigh, F. Ceppa, M. P. Kennedy, P. G. Noone, J. L. Carson, M. J. Hazucha, A. Lori, J. Horvath, H. Olbrich, et al. Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation Am. J. Respir. Crit. Care Med., October 15, 2006; 174(8): 858 - 866. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. S. Sullivan, S. J. Bowne, D. G. Birch, D. Hughbanks-Wheaton, J. R. Heckenlively, R. A. Lewis, C. A. Garcia, R. S. Ruiz, S. H. Blanton, H. Northrup, et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest. Ophthalmol. Vis. Sci., July 1, 2006; 47(7): 3052 - 3064. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. A. Ferreira Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms Hum. Mol. Genet., October 15, 2005; 14(suppl_2): R259 - R267. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
X. Lu, M. Guruju, J. Oswald, and P. A. Ferreira Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis Hum. Mol. Genet., May 15, 2005; 14(10): 1327 - 1340. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Wada, M. A. Sandberg, T. L. McGee, M. A. Stillberger, E. L. Berson, and T. P. Dryja Screen of the IMPDH1 Gene among Patients with Dominant Retinitis Pigmentosa and Clinical Features Associated with the Most Common Mutation, Asp226Asn Invest. Ophthalmol. Vis. Sci., May 1, 2005; 46(5): 1735 - 1741. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. W. Cohen, R. Hnasko, W. Schubert, and M. P. Lisanti Role of Caveolae and Caveolins in Health and Disease Physiol Rev, October 1, 2004; 84(4): 1341 - 1379. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. M. Ritter, K. Boesze-Battaglia, B. M. Tam, O. L. Moritz, N. Khattree, S.-C. Chen, and A. F. X. Goldberg Uncoupling of Photoreceptor Peripherin/rds Fusogenic Activity from Biosynthesis, Subunit Assembly, and Targeting: A POTENTIAL MECHANISM FOR PATHOGENIC EFFECTS J. Biol. Chem., September 17, 2004; 279(38): 39958 - 39967. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A I den Hollander, J J C van Lith-Verhoeven, F F J Kersten, J G A M Heister, C G F de Kovel, A F Deutman, C B Hoyng, and F P M Cremers Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2 J. Med. Genet., September 1, 2004; 41(9): 699 - 702. [Full Text] [PDF]
|
|
|
|
 |
|
 A. M. Pierides, Y. Athanasiou, K. Demetriou, M. Koptides, and C. C. Deltas A family with the branchio-oto-renal syndrome: clinical and genetic correlations Nephrol. Dial. Transplant., June 1, 2002; 17(6): 1014 - 1018. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Rivolta, D. Sharon, M. M. DeAngelis, and T. P. Dryja Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns Hum. Mol. Genet., May 15, 2002; 11(10): 1219 - 1227. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. M. DeAngelis, J. L. Grimsby, M. A. Sandberg, E. L. Berson, and T. P. Dryja Novel Mutations in the NRL Gene and Associated Clinical Findings in Patients With Dominant Retinitis Pigmentosa Arch Ophthalmol, March 1, 2002; 120(3): 369 - 375. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. L. Berson, J. L. Grimsby, S. M. Adams, T. L. McGee, E. Sweklo, E. A. Pierce, M. A. Sandberg, and T. P. Dryja Clinical Features and Mutations in Patients with Dominant Retinitis Pigmentosa-1 (RP1) Invest. Ophthalmol. Vis. Sci., September 1, 2001; 42(10): 2217 - 2224. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Kedzierski, S. Nusinowitz, D. Birch, G. Clarke, R. R. McInnes, D. Bok, and G. H. Travis Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa PNAS, June 20, 2001; (2001) 141124198. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. J. R. Loewen and R. S. Molday Disulfide-mediated Oligomerization of Peripherin/Rds and Rom-1 in Photoreceptor Disk Membranes. IMPLICATIONS FOR PHOTORECEPTOR OUTER SEGMENT MORPHOGENESIS AND DEGENERATION J. Biol. Chem., February 25, 2000; 275(8): 5370 - 5378. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Kedzierski, J. Weng, and G. H. Travis Analysis of the rds/peripherin{middle dot}rom1 Complex in Transgenic Photoreceptors That Express a Chimeric Protein J. Biol. Chem., October 8, 1999; 274(41): 29181 - 29187. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. P. Dryja, D. E. Rucinski, S. H. Chen, and E. L. Berson Frequency of Mutations in the Gene Encoding the {alpha} Subunit of Rod cGMP-Phosphodiesterase in Autosomal Recessive Retinitis Pigmentosa Invest. Ophthalmol. Vis. Sci., July 1, 1999; 40(8): 1859 - 1865. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Kuroiwa, H. Kojima, T. Kikuchi, and N. Yoshimura ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients Br. J. Ophthalmol., May 1, 1999; 83(5): 613 - 615. [Abstract] [Full Text]
|
|
|
|
|
|
C. J. R. Loewen, O. L. Moritz, and R. S. Molday Molecular Characterization of Peripherin-2 and Rom-1 Mutants Responsible for Digenic Retinitis Pigmentosa J. Biol. Chem., June 15, 2001; 276(25): 22388 - 22396. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Kedzierski, S. Nusinowitz, D. Birch, G. Clarke, R. R. McInnes, D. Bok, and G. H. Travis Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa PNAS, July 3, 2001; 98(14): 7718 - 7723. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
