Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Peripherin-2

Das PRPH2-Gen kodiert ein Membranprotein, welches bei der Signaltransduktion bei der Zellentwicklung beteiligt ist. Mutationen verursachen autosomal rezessive oder dominante Lebersche kongenitale Amaurose Typ 18.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 18
PRPH2

Referenzen:

1.

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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2.

Kajiwara K et al. (1991) Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

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3.

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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4.

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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5.

Kajiwara K et al. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

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6.

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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7.

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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8.

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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9.

Démant P et al. (1979) The map position of the rds gene on the 17th chromosome of the mouse.

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10.

van Nie R et al. (1978) A new H-2-linked mutation, rds, causing retinal degeneration in the mouse.

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11.

Travis GH et al. (1991) The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.

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12.

Travis GH et al. (1991) The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

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13.

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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14.

Pendleton JW et al. (1991) The peripherin gene maps to mouse chromosome 15.

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15.

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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16.

None (1974) A clinicopathologic study of a peculiar foveomacular dystrophy.

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17.

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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18.

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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19.

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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20.

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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21.

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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22.

Grüning G et al. (1994) Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.

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23.

Meins M et al. (1993) Heterozygous 'null allele' mutation in the human peripherin/RDS gene.

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24.

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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25.

Wroblewski JJ et al. (1994) Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.

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26.

Travis GH et al. (1993) A medley of retinal dystrophies.

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27.

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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28.

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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29.

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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30.

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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31.

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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32.

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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33.

Kohl S et al. (1997) RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

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34.

Felbor U et al. (1997) Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.

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35.

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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36.

Ali RR et al. (2000) Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.

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37.

None (2001) Modifier genes in mice and humans.

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38.

Loewen CJ et al. (2001) Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.

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39.

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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40.

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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41.

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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42.

Yang Z et al. (2003) A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy.

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43.

Li C et al. (2003) Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues.

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44.

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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45.

Ding XQ et al. (2004) The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice.

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46.

Yang Z et al. (2004) A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.

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47.

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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48.

Chakraborty D et al. (2009) Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones.

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49.

Boon CJ et al. (2009) Central areolar choroidal dystrophy.

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50.

Anand S et al. (2009) Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.

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51.

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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52.

Conley SM et al. (2014) Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.

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53.

Stuck MW et al. (2014) The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.

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54.

Orphanet article

Orphanet ID 118070 [^]
55.

NCBI article

NCBI 5961 [^]
56.

OMIM.ORG article

Omim 179605 [^]
Update: 29. April 2019