|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD).
|
28053051 |
2017 |
|
Retinitis Pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the present study, a search for causal mutations in RHO and peripherin/RDS in a group of 28 Mexican RP probands with AD inheritance was performed.
|
19958124 |
2009 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene.
|
18050133 |
2008 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An overview is presented of the broad spectrum of clinical phenotypes caused by human peripherin/RDS gene mutations, ranging from various macular dystrophies to widespread forms of retinal dystrophy such as retinitis pigmentosa.
|
18328765 |
2008 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel p.Trp94X mutation in RDS was found in all three affected members of a two-generation family that was associated with retinitis pigmentosa in the son, pattern dystrophy in the daughter and fundus flavimaculatus in the mother.
|
16916875 |
2007 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population.
|
17653047 |
2007 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, heterozygous mutations in ROM1 on 11q13, in combination with heterozygous mutations in RDS on 6p21.1-cen, cause digenic RP (the two-locus mechanism).
|
11559856 |
2001 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Of the 54 Japanese patients, one with retinitis pigmentosa had a heterozygous C to T change at the second nucleotide at codon 210 of exon 2 (CCT to CTT/Pro210Leu) of the peripherin/RDS gene.
|
11485765 |
2001 |
|
Retinitis Pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
In previous efforts to identify the erd locus, canine homologs of genes causally associated with RP in humans, such as opsin (RHO), the beta-subunit gene for cyclic GMP phosphodiesterase (PDE6B), and RDS/peripherin, were excluded.
|
10409424 |
1999 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These 3 RDS gene mutations appear to be polypeptide polymorphisms not related to adRP.
|
10077725 |
1999 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.
|
10193525 |
1998 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP.
|
10627133 |
1998 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The authors found mutations in the RDS gene as a cause of dominant or digenic RP and mutations in the ROM1 gene as a cause of digenic RP.
|
9331261 |
1997 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine-46-stop).
|
7825692 |
1995 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy.
|
7862413 |
1995 |
|
Retinitis Pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP).
|
8202715 |
1994 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation in codon 216 of the peripherin/rds gene, resulting in a substitution of the amino acid serine for proline, was found to segregate with retinitis pigmentosa in these two families.
|
8058286 |
1994 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.
|
8045710 |
1994 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
|
8485576 |
1993 |
|
Retinitis Pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
The genes encoding two retinal specific proteins, rhodopsin and peripherin/RDS, have been implicated in causing adRP due to the observation of many different mutations in these genes in patients suffering from RP.
|
8364569 |
1993 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.
|
1749427 |
1991 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This information is of potential value for testing linkage of the RDS gene to the disease phenotype in families with retinitis pigmentosa.
|
1679750 |
1991 |