|
ADAMTSL4
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
The authors describe a 4-year-old girl with isolated ectopia lentis et pupillae caused by pathogenic variants in the ADAMTSL4 gene and discuss the molecular genetic work-up of individuals with ectopia lentis.[J Pediatr Ophthalmol Strabismus.2019;56:e45-e48.].
|
31282960 |
2019 |
|
ADAMTSL4
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
A recurrent pathogenic ADAMTSL4 variant is a major cause of early onset autosomal recessive EL in a Cook Island Māori population and associated with a common haplotype, suggesting a founder effect.
|
28394649 |
2017 |
|
ADAMTSL4
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we provide an overview of currently described mutations in ADAMTSL4, the main gene involved in isolated EL.
|
28642162 |
2017 |
|
ADAMTSL4
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
|
28642162 |
2017 |
|
ADAMTSL4
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
|
26653794 |
2016 |
|
ADAMTSL4
|
0.480 |
Biomarker
|
disease |
BEFREE |
In summary, the Adamtsl4(tvrm267) model provides a valuable tool to further elucidate the molecular basis of zonule formation, the pathophysiology of EL and ADAMTSL4 function in the maintenance of the RPE.
|
26405179 |
2015 |
|
ADAMTSL4
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.
|
21051722 |
2011 |
|
ADAMTSL4
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
|
20702823 |
2010 |
|
ADAMTSL4
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
The identification of a causative mutation in ADAMTSL4 may allow the exclusion of Marfan syndrome in these families and guide the clinical management, of particular relevance in young children affected by EL.
|
20564469 |
2010 |
|
ADAMTSL4
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive EL, thus confirming the involvement of this gene in this condition and underlining the major role of ADAMTS proteases in zonular fibers homeostasis.
|
20141359 |
2010 |
|
ADAMTSL4
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
|
20564469 |
2010 |
|
ADAMTSL4
|
0.480 |
GeneticVariation
|
disease |
LHGDN |
We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers.
|
19200529 |
2009 |
|
ADAMTSL4
|
0.480 |
Biomarker
|
disease |
HPO |
|
|
|
|
ADAMTSL4
|
0.480 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|