Recombinant Human Peripherin-2 (PRPH2)

1. Novel C165R mutation of retinal degeneration slow/peripherin gene in family affected by different patterns of retinal dystrophy. PMID: 17851265
2. Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted next-generation sequencing. Families with noted examples of phenotypic variation or apparent non-penetrant individuals may offer a clue to suspect complex inheritance. PMID: 28761320
3. These results suggest that genetic variants in PRPH2 do not compose a major genetic risk factor for adult-onset foveomacular vitelliform dystrophy (AFVD). The Israeli population shows a higher percentage of minor allele frequencies in SNPs in the PRPH2 gene, as compared with other populations. PMID: 26849151
4. ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. Thus one method by which ROM1 may act as a disease modifier is by contributing to the large variability in PRPH2-associated disease phenotype PMID: 28053051
5. These results support the idea that mutations may differentially affect Prph2's role as a structural component, and its role as a functional protein key for organizing membrane domains for cellular signalling. These roles may be different in rods and cones, thus contributing to the phenotypic heterogeneity that characterizes diseases associated with Prph2 mutations. PMID: 27365499
6. there are phenotypic variabilities of late-onset or nonpenetrance in individuals who carried the R172W mutation of the PRPH2 gene. The phenotypes ranged from severe cone-rod dystrophy to asymptomatic individuals with normal retinal function PMID: 27977834
7. This review reveled that The PRPH2/RDS protein is a critical component for normal vision through its role as a structural protein important for the proper formation of both rod and cone photoreceptor cells. PMID: 26773759
8. Of the 225 genetic tests performed, 150 were for recessive IRD, and 75 were for dominant IRD. A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD and 19 (26%) probands with dominant IRD. Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (14), BEST1 (2), PRPH2 (1), and TIMP3 PMID: 28005406
9. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis. PMID: 27813578
10. The PRPH2 c.828+3A>T mutation results in multiple distinct phenotypes likely modified by protein haplotypes in trans. PMID: 26842753
11. Bi-allelic PRPH2 mutations cause a distinct Leber congenital amaurosis phenotype in infancy; affected adults have prominent maculopathy. PMID: 26061163
12. Our data suggest that upregulation of PRPH2 levels in combination with defects in the PRPH2 function caused by the mutation might be an important mechanism leading to cone degeneration PMID: 26796962
13. Studies indicate that mutations in the photoreceptor specific gene retina degeneration slow (RDS; peripherin-2) lead to a variety of retinal degenerative diseases. PMID: 26427414
14. reason for high qAF among many PRPH2/RDS-positive patients is not known; higher RPE lipofuscin accumulation may be a primary or secondary effect of the PRPH2/RDS mutation PMID: 26024099
15. The PRPH2 c.828+3A>T splice site mutation is a frequent cause of inherited retinal dystrophies and is owing to the founder effect. PMID: 25675413
16. The mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0%-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series. PMID: 25447119
17. This article reports a group of patients with molecularly confirmed mutations in the PRPH2 gene and (electro-) negative electroretinograms, an abnormality usually associated with inner retinal dysfunction. PMID: 24608669
18. Novel mutation c.389T > C (p.Leu130Pro) in PRPH2 was found in patients with retinitis pigmentosa and hearing loss. PMID: 22842402
19. 5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659, rs434102 and c:929G>A) were detected in PRPH2. PMID: 22948568
20. This is the first report of marked intrafamilial variation of pattern dystrophy because of peripherin/RDS Y141C mutation. Intravitreal ranibizumab injections might be a valuable treatment for associated subfoveal choroidal neovascularization. PMID: 22466463
21. Mutation in PRPH2 gene is associated with Stargardt Disease. PMID: 22863181
22. Molecular screening of the candidate genes BEST1 and PRPH2 revealed no mutations. PMID: 22174098
23. PRPH2 screening should be recommended to patients with an age of onset more than 40 years. For an onset between 30 and 40 years, PRPH2 can be screened if no mutation has been detected in BEST1. PMID: 21269699
24. Four mutations of the PRPH2 gene were found in 3 sporadic cases and 3 families (n = 11). A p.R46X mutation, previously described in CACD, was found in 3 members of a family with AOFVD and in a sporadic case with DMD. PMID: 20213611
25. peripherin/RDS mutations produced diffuse AF abnormalities, disruption of the photoreceptor/RPE junction, and increased cone spacing, consistent with cone loss in the macula. PMID: 21071739
26. The patient's DNA contained a mutation within the peripherin/RDS gene (CAG>TAG nucleotide substitution) in the coding sequence of exon 3, resulting in the diagnosis of pattern dystrophy. PMID: 20458258
27. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 should be tested for additional mutations in ABCA4 and ROM1, as they may alter the progression of the PRPH2 phenotype. PMID: 20335603
28. The structure of peripherin/RDS and of a pathogenic mutant is assessed spectroscopically for the first time. PMID: 19921174
29. Five novel rhodopsin mutations were c.365A>G in exon 2 (Glu122Gly), and c.233A> in exon 1 (Asn78Ile). The other three RHO mutations were Phe45Leu, Arg135Trp, and Ser186Trp. No peripherin/RDS gene mutations were demonstrated in the remaining 23 probands. PMID: 19958124
30. This study describes a new RDS/peripherin mutation for BPD and provides the first combined genetic-pathological study of this condition. PMID: 11934323
31. This review describes the role of peripherin in vision, specifically, disk morphogenesis. PMID: 12019563
32. A frameshift null mutation in the RDS/Peripherin gene associated with a relatively severe manifestation of adult-onset foveomacular dystrophy in affected family members. PMID: 12566026
33. Autosomal dominant macular dystrophy is described in a large family with an Arg172Trp mutation in the RDS gene. PMID: 12608515
34. This study reveals that genetic heterogeneity for BSMD (butterfly-shaped macular dystrophy) is not associated with a mutation in the peripherin/RDS gene nor with any other known non-syndromic retinal disease gene. PMID: 12724643
35. The RDS mutation in codon 141 is associated with an unusual age-related macular degeneration-like late-onset maculopathy. PMID: 12882809
36. Peptide mass-signature genotyping applied to the RDS/peripherin gene of 16 individuals from a family exhibiting autosomal dominant macular degeneration revealed an A-->T transversion in the 5' splice site of intron 2 that is the likely cause of disease. PMID: 12902384
37. A deletion of Asn169 in the peripherin/RDS protein causes a peculiar form of autosomal dominant macular dystrophy in a large family from the Netherlands. PMID: 14557182
38. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. PMID: 14557183
39. Peripherin gene mutation associated with diverse macular phenotypes PMID: 15370544
40. Proline at position 296 is necessary for optimal function. PMID: 15591062
41. This is the first report describing marked intrafamilial variation associated with Arg172Trp (R172W) peripherin/RDS mutation, including nonpenetrance. PMID: 16019073
42. A three-generation family with an autosomal dominant pattern dystrophy arising from a previously unreported splice site mutation in the RDS gene is described. PMID: 16340530
43. Age of onset, progression of the disease, and characteristic fundus abnormalities share similarities to previous reports on families with central areolar choroidal dystrophy associated with peripherin/RDS gene mutations PMID: 16832026
44. Although RDS and VMD2 are the only known genes with mutations contributing to adult-onset vitelliform macular dystropht, our series demonstrates that most patients have mutations in genes that have yet to be discovered. PMID: 16885924
45. To our knowledge, we report the first complex mutation in the peripherin/RDS gene as the cause of a mild macular phenotype, supporting the importance of molecular diagnosis in genetic counseling. PMID: 17031298
46. The two siblings underwent genetic testing and were found to be carriers of a heterozygous frame-shift mutation 920delT affecting codon 307 of the peripherin/RDS gene PMID: 17148040
47. mutations in the RDS/peripherin gene cause choroidal neovascularization in patients with adult-onset foveomacular dystrophy PMID: 17249552
48. RDS gene is unlikely to be involved in the pathogenesis of age-related macular degeneration. PMID: 17362467
49. Mutations in the peripherin/RDS gene are the major cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. PMID: 17504850
50. Different macular dystrophy phenotypes according to the mutations in peripherin/RDS. Limited phenotype variation was observed for these mutations within the family. PMID: 17653047

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HGNC: 9942

OMIM: 136880

KEGG: hsa:5961

STRING: 9606.ENSP00000230381

UniGene: Hs.654489