|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Peripherin 2 (Prph2) is a photoreceptor tetraspanin, and deletion of codon 153 (K153Δ) leads to retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in the same family.
|
27365499 |
2016 |
|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Individuals who coinherit a L185P peripherin-2 mutation and a null or G113E rom-1 mutation are afflicted with retinitis pigmentosa, whereas individuals who inherit only one defective gene are normal.
|
11297544 |
2001 |
|
Retinitis Pigmentosa
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
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
|
0.200 |
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 |
|
Retinitis Pigmentosa
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Over 90 different disease-causing mutations in PRPH2 have been identified, which cause a variety of forms of retinitis pigmentosa and macular degeneration.
|
25167981 |
2014 |
|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The same disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) was identified in three of the four Japanese families with adRP, suggesting a founder effect.
|
29630435 |
2018 |
|
Retinitis Pigmentosa
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
|
8485576 |
1993 |
|
Retinitis Pigmentosa
|
0.200 |
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
|
0.200 |
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
|
0.200 |
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
|
0.200 |
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
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The PRPH2 mutation was found in 97 individuals of 19 independently ascertained families with a clinical diagnosis of retinitis pigmentosa, macular dystrophy, and/or pattern dystrophy.
|
25675413 |
2015 |
|
Retinitis Pigmentosa
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
She had autosomal dominant RP with a heterozygous PRPH2 mutation (c.410G > A) and complained of metamorphopsia in her left eye.
|
30217183 |
2018 |
|
Retinitis Pigmentosa
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These 3 RDS gene mutations appear to be polypeptide polymorphisms not related to adRP.
|
10077725 |
1999 |
|
Retinitis Pigmentosa
|
0.200 |
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
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We revisited patients in the latter case and found that homozygous mutations in PRPH2 can cause LCA/juvenile RP.
|
23847139 |
2013 |
|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PRPF31, RHO, and PRPH2 were found in low frequencies (1 of 9 autosomal dominant RP families) in Chinese patients, and the PRPF31 and PRPH2 truncating mutations were novel.
|
19506198 |
2009 |
|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The PRPH2 c.828+3A>T mutation results in multiple distinct phenotypes likely modified by protein haplotypes in trans; the odds of having the CACD/RP-like phenotype (versus the PD phenotype) are 7.16 times greater with a Glu304-Lys310-Gly338 haplotype in trans.
|
26842753 |
2016 |