Peripherin-2
The PRPH2 gene encodes a transmembrane protein involved in signal transduction during development. Mutations cause autosomal recessive or dominant Leber congenital amaurosis type 18.
Genetests:
Related Diseases:
References:
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McNally N et al. (2002) Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene.
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Kajiwara K et al. (1993) A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
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3. |
Ma J et al. (1995) Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II.
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4. |
Hoyng CB et al. (1996) Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.
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5. |
Keen TJ et al. (1996) Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
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6. |
Piguet B et al. (1996) Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
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7. |
Kohl S et al. (1997) RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.
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8. |
Felbor U et al. (1997) Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
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9. |
Payne AM et al. (1998) Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.
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10. |
Ali RR et al. (2000) Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.
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11. |
None (2001) Modifier genes in mice and humans.
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12. |
Loewen CJ et al. (2001) Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.
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13. |
Kedzierski W et al. (2001) Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.
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14. |
Sarra GM et al. (2001) Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina.
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15. |
Kajiwara K et al. (1991) Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
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16. |
Yang Z et al. (2003) A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy.
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17. |
Li C et al. (2003) Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues.
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18. |
Yanagihashi S et al. (2003) Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.
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19. |
Ding XQ et al. (2004) The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice.
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20. |
Yang Z et al. (2004) A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.
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21. |
Lee ES et al. (2006) Characterization of peripherin/rds and rom-1 transport in rod photoreceptors of transgenic and knockout animals.
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22. |
Chakraborty D et al. (2009) Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones.
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23. |
Boon CJ et al. (2009) Central areolar choroidal dystrophy.
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24. |
Anand S et al. (2009) Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
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25. |
Vaclavik V et al. (2012) Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
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26. |
Conley SM et al. (2014) Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
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27. |
Stuck MW et al. (2014) The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.
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28. |
Travis GH et al. (1993) A medley of retinal dystrophies.
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29. |
Wang X et al. (2013) Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
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30. |
Farrar GJ et al. (1991) A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.
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31. |
Kikawa E et al. (1994) A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.
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32. |
Kajiwara K et al. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
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33. |
Weleber RG et al. (1993) 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.
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34. |
Wells J et al. (1993) Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
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35. |
Manes G et al. (2015) High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
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36. |
Démant P et al. (1979) The map position of the rds gene on the 17th chromosome of the mouse.
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37. |
van Nie R et al. (1978) A new H-2-linked mutation, rds, causing retinal degeneration in the mouse.
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38. |
Travis GH et al. (1991) The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.
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39. |
Travis GH et al. (1991) The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.
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40. |
Connell G et al. (1991) Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse.
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41. |
Travis GH et al. (1989) Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds).
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42. |
Nichols BE et al. (1993) Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.
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43. |
Wroblewski JJ et al. (1994) Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.
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44. |
Nichols BE et al. (1993) A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.
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45. |
Meins M et al. (1993) Heterozygous 'null allele' mutation in the human peripherin/RDS gene.
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46. |
Grüning G et al. (1994) Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
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47. |
Apfelstedt-Sylla E et al. (1995) Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
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48. |
Gorin MB et al. (1995) A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
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49. |
Kim RY et al. (1995) Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
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50. |
Feist RM et al. (1994) Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)
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51. |
Reig C et al. (1995) A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.
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52. |
None (1974) A clinicopathologic study of a peculiar foveomacular dystrophy.
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53. |
Pendleton JW et al. (1991) The peripherin gene maps to mouse chromosome 15.
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54. |
Orphanet article
Orphanet ID 118070
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55. |
NCBI article
NCBI 5961
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OMIM.ORG article
Omim 179605
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Wikipedia article
Wikipedia EN (Peripherin_2)
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Update: Aug. 14, 2020