RDS/peripherin gene mutations are frequent causes of central retinal dystrophies

Journal of Medical Genetics

Volumn 34, Issue 8, 1997, Pages 620-626

  Kohl, Susanne ^a   Christ Adler, Margot ^a   Apfelstedt Sylla, Eckart ^a   Kellner, Ulrich ^b   Eckstein, Anja ^a,c   Zrenner, Eberhart ^a   Wissinger, Bernd ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Mutation analysis; RDS peripherin; Retinal dystrophies

Indexed keywords

DNA; PERIPHERIN;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILY; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DYSTROPHY; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030874238     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.8.620     Document Type: Article

References (25)

1. Travis GH, Sutcliffe JG, Bok D. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 1991;6:61-70.
2. Connell G, Bascom R, Molday L, Reid D, McInnes R, Molday RS. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci USA 1991;88:723-6.
3. Bascom RA, Manara S, Collins L, Molday RS, Kalnins VI, McInnes RR. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 1992;8:1172-84.
4. Goldberg AFX, Moritz OL, Molday RS. Heterologous expression of photoreceptor peripherin/rds and rom-1 in COS-1 cells: assembly, interaction and localization of multisubunit complexes. Biochemistry 1995;34:14213-19.
5. Arikawa K, Molday LL, Molday RS, Williams DS. Localization of peripherin/RDS in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J Cell Biol 1992;116:659-67.
6. Van Nie R, Ivanyi D, Demant P. A new H-2 linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens 1978;12:106-8.
7. Hawkins RK, Jansen HG, Sanyal S. Development and degeneration of retina in the rds mutant mice: photoreceptor abnormalities in the heterozygotes. Exp Eye Res 1985;41:701-20.
8. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 1989;338:70-3.
9. Ma J, Norton JC, Allen AC, et al. Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II. Genomics 1995;28:212-19.
10. Travis GH, Christerson L, Klisak I, et al. The human retinal degeneration slow (rds) gene: chromosomal assignment and structure of the mRNA. Genomics 1991;10:733-9.
11. Farrar GJ, Jordan SA, Kenna P, et al. Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics 1991;11:870-4.
12. Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991;354:480-3.
13. Farrar GJ, Kenna P, Jordan SA, et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 1991;354:478-90.
14. Wells J, Wroblewski J, Keen J, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993;3:213-17.
15. Weleber RG, Carr RE, Murphy WH, Sheffield VC, Stone EM. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol 1993;111:1531-42.
16. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-8.
17. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
18. Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991;196:80-3.
19. Wroblewski J, Wells J, Eckstein A, et al. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. Ophthalmology 1994;101:12-22.
20. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 1993;3:202-7.
21. Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995;4:1739-43.
22. Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E. Extensive intrafamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol 1995;79:28-34.
23. Farrar GJ, Kenna P, Jordan SA, et al. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/ RDS locus in the original 6p-linked pedigree. Genomics 1992;14:805-7.
24. Feist RM, White MF, Skalka H, Stone EM. Choroidal neovascularization in a patient with adult foveolar dystrophy and a mutation in the retinal degeneration slow gene (Pro 210Arg). Am J Ophthalmol 1994;118:259-60.
25. Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Ophthalmology 1994;101:1409-21.