|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
NMNAT1 is a nuclear enzyme essential for nicotinamide adenine dinucleotide (NAD) biosynthesis pathways, but the mechanisms underlying the LCA pathology and whether NMNAT1 has a role in normal retinal development remain unclear.
|
30166529 |
2018 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA).
|
29184169 |
2018 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Eleven deleterious variants, six nonsense and five missense, were identified in seven genes: four LCA-associated genes (CEP290, IQCB1, NMNAT1, and RPGRIP1), one gene responsible for syndromic LCA (ALMS1), and two IRDs-related genes (CTNNA1 and CYP4V2).
|
28453600 |
2017 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study uncovered hidden genetic variation in NMNAT1-associated LCA and emphasized a shift from coding to noncoding regulatory mutations and repeat-mediated SVs in the molecular pathogenesis of heterogeneous recessive disorders such as hereditary blindness.
|
26316326 |
2015 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The literature was reviewed for reports of NMNAT1-associated LCA.
|
26464178 |
2015 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA samples of 161 patients with LCA without genetic diagnosis were analyzed for variants in NMNAT1 using Sanger sequencing.
|
24940029 |
2014 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.
|
22842230 |
2012 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also found NMNAT1 mutations in ten other individuals with LCA, all of whom carry the p.Glu257Lys variant.
|
22842231 |
2012 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results are the first to link an NMNAT isoform to disease in humans and indicate that NMNAT1 mutations cause LCA.
|
22842227 |
2012 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent molecular genetic studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, RPGRIP1, TULP1, LCA3, LCA5, and LCA9) to LCA.
|
16082399 |
2006 |