|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with RP (n = 20) and LCA due to CEP290 (n = 12) or NPHP5 (n = 6) mutations were studied.
|
31212307 |
2019 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here we show that CNNM4 interacts with IQCB1, which causes Leber congenital amaurosis (LCA) when mutated.
|
29322253 |
2018 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Case-1 additionally had developmental delay, hemi-hyperplasia, toe syndactyly, and kidney cysts.ConclusionIQCB1-related syndromic or non-syndromic Leber congenital amaurosis (LCA) carries unique retinal characteristics which helps differentiate IQCB1-retinopathy from other genetic forms of LCA in childhood.
|
29219953 |
2018 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in the human <i>IQCB1/NPHP5</i> gene are associated with Senior-Løken syndrome (SLS), a ciliopathy presenting with nephronophthisis and Leber congenital amaurosis (LCA).
|
30713422 |
2018 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using the canine NPHP5-LCA model we compared human and canine retinal phenotypes, and examined the early stages of photoreceptor development and degeneration, the kinetics of photoreceptor loss, the progression of degeneration and the expression profiles of selected genes.
|
27506978 |
2016 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overall, 11 out of 30 LCA cases (36.6%) revealed pathogenic variations with the involvement of RPE65 (16.6%), GUCY2D (10%), RPGRIP1 (3.3%), AIPL1 (3.3%) and CRX & IQCB1 (3.3%).
|
24066033 |
2013 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent success of retinal gene therapy in one form of LCA prompted the question whether we know enough about human NPHP5 and NPHP6 disease to plan such treatment.
|
21245082 |
2011 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Results show that the onset of renal failure in patients with IQCB1 mutations is highly variable, and that mutations are also found in LCA patients without nephronophthisis, rendering IQCB1 a new gene for LCA.
|
20881296 |
2011 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore, in our LCA collection from Saudi Arabia, three of the 37 unassigned families carry mutations in retinal disease genes ALMS1, CNGA3, and MYO7A, which have not been previously associated with LCA, and 3 of the 37 carry novel mutations in IQCB1, which has been recently associated with LCA.
|
21901789 |
2011 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NPHP5 can cause LCA without early-onset renal disease.
|
21220633 |
2011 |