Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Lebersche kongenitale Amaurose 18
PRPH2

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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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8.

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

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9.

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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10.

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

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11.

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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12.

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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13.

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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14.

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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15.

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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16.

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

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17.

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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18.

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

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19.

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

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20.

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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21.

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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22.

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

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23.

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

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24.

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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25.

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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26.

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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27.

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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28.

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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29.

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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30.

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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31.

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

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32.

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

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33.

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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34.

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

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35.

Nadeau JH et al. (2001) Modifier genes in mice and humans.

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36.

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

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37.

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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38.

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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39.

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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40.

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

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41.

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

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42.

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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43.

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

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44.

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

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45.

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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46.

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

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47.

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

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48.

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

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49.

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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50.

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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51.

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

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52.

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

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53.

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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