|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration ranging from rod-dominant retinitis pigmentosa (RP) to cone-dominant macular dystrophy (MD).
|
29961824 |
2018 |
|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we identified numerous mutations in autosomal dominant (PRPF31, PRPH2, CRX) and X-linked (RPGR) RP genes in patients with sporadic RP.
|
30543658 |
2018 |
|
Retinitis Pigmentosa
|
0.200 |
Biomarker
|
disease |
BEFREE |
These data show that ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein.
|
28053051 |
2017 |
|
Retinitis Pigmentosa
|
0.200 |
Biomarker
|
disease |
BEFREE |
Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.
|
28539581 |
2017 |
|
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 |
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 |
|
Retinitis Pigmentosa
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Multiple PRPH2/RDS disease-causing mutations have been found in humans, and they are associated with various blinding diseases of the retina such as macular degeneration and retinitis pigmentosa, the vast majority of which are inherited dominantly, though recessive LCA and digenic RP have also been associated with RDS mutations.
|
26773759 |
2016 |
|
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 |
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 |
Finally, we demonstrate that the p.G266D retinitis pigmentosa mutation found within TM4 selectively abolishes the binding of peripherin-2 to rhodopsin.
|
24963162 |
2014 |
|
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 |
Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.
|
22842402 |
2012 |
|
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 |
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 |
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 |
LHGDN |
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
|
0.200 |
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
|
0.200 |
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
|
0.200 |
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 |
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 |
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 |
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 |