|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The R345W mutation in EFEMP1 causes malattia leventinese, an autosomal dominant eye disease with pathogenesis similar to an early-onset age-related macular degeneration.
|
31095679 |
2019 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
However, how the R3</span>45W mutation actually causes ML is still largely unknown.
|
25481286 |
2015 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The R345W mutation in EFEMP1 caused Malattia leventinese/Doyne honeycomb retinal dystrophy in a Chinese family.
|
25111685 |
2014 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Interestingly, in untagged fibulin-3 studies, one compound, phorbol 12-myristate 13-acetate, reduced R345W fibulin-3 secretion while minimally enhancing WT fibulin-3 secretion, the desired activity and selectivity we sought for ML.
|
23230284 |
2013 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An Arg345Trp (R345W) mutation in epidermal growth factor-containing, fibulin-like extracellular matrix protein 1 (EFEMP1) causes its inefficient secretion and the macular dystrophy malattia leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD).
|
22031286 |
2011 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The inherited macular degeneration Doyne honeycomb retinal dystrophy/Malattia Leventinese is thought to be caused by an R345W mutation in the EFEMP1 gene (also called fibulin-3).
|
17666404 |
2007 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD.
|
15218514 |
2005 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The Arg345Trp disease-associated allele of the EFEMP1 gene does not appear to be associated with cases of early onset drusen that fall outside the diagnosis of malattia leventinese or Doyne honeycomb retinal dystrophy, nor does it appear to play a role in familial age-related macular degeneration.
|
12427233 |
2002 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
At least two forms, Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese (MLVT), are associated with a single missense mutation (R345W) in the gene encoding the EGF-containing fibulin-like extracellular matrix protein-1 (EFEMP1) and are now thought to represent a single entity.
|
11262647 |
2001 |
|
rs121434491
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The Arg345Trp mutation remains the only cause of Doyne hereditary macular dystrophy, also known as Malattia Leventinese or radial dominant drusen.
|
11384588 |
2001 |
|
rs121434491
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|