Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A total of 13 patients with genetically confirmed CFEOM (via genetic testing for mutations in KIF21A, PHOX2A, and TUBB3) were retrospectively identified after undergoing strabismus surgery at Boston Children's Hospital and surgical outcomes were compared.
|
31541710 |
2019 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although mouse-model experiments have not revealed any findings of neuronal migration disorders, human TUBB3 mutations have been identified in patients with congenital fibrosis of the extraocular muscles.
|
26739025 |
2016 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to cause MCD had not been associated with CFEOM or other forms of paralytic strabismus, it was hypothesized that each set of mutations might alter microtubule function differently.
|
26639658 |
2016 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A de novo TUBB3 c.1228G>A mutation arose in a female proband who displayed CFEOM, facial weakness, intellectual and social disabilities, and anosmia.
|
25559402 |
2015 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four unrelated participants, also not meeting MDC, had large-angle exotropia, vertical gaze deficiency, and ptosis consistent with congenital fibrosis of the extraocular muscles type 3 (CFEOM3); 1 patient harbored a novel TUBB3 mutation, and 3 patients harbored previously reported de novo TUBB3 mutations.
|
24612975 |
2014 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E410K amino acid substitution that directly alters a kinesin motor protein binding site.
|
23378218 |
2013 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
|
20074521 |
2010 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
|
20393110 |
2010 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One family had CFEOM type 3 (CFEOM3) with typically varying expression of phenotypes between individuals.
|
18332320 |
2008 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
|
15223798 |
2004 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The disorder was tested for linkage to two known autosomal dominant CFEOM loci on chromosome 12p11.2-q12 (CFEOM1) and chromosome 16q24 (CFEOM3) using microsatellite markers.
|
12181522 |
2002 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
Biomarker
|
disease |
BEFREE |
This Turkish family segregates a variably expressed form of CFEOM that most closely resembles CFEOM3-linked CFEOM, but maps to the CFEOM1 locus.
|
10922204 |
2000 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data establish that CFEOM3 is a phenotypically variant and genotypically distinct form of CFEOM with linkage to chromosome 16qter.
|
10393037 |
1999 |
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital Fibrosis of the Extraocular Muscles
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|