Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 18
PRPH2

References:

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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Update: Sept. 26, 2018