×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
Biomarker
disease
BEFREE
CFEOM1 maps to the FEOM1 locus on chromosome 12 and is the consequence of mutations in the KIF21A gene.
15621876
2004
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
GeneticVariation
disease
BEFREE
The lack of KIF21A mutations in CFEOM1 patients exclusively from consanguineous families, most of whom had siblings with CFEOM, is strong evidence for a recessive form of CFEOM1.
21264235
2011
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
GeneticVariation
disease
BEFREE
Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations.
27485312
2016
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
Biomarker
disease
BEFREE
To determine whether mutations in the sarcospan gene are responsible for CFEOM1 we: (1) attempted to map sarcospan to the CFEOM1 critical region; (2) developed a genomic primer set to directly sequence the sarcospan gene in CFEOM1 patients; and (3) generated an anti-sarcospan antibody to examine extraocular muscle biopsies from CFEOM1 patients.
11180757
2001
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
Biomarker
disease
BEFREE
KIF21A immunoreactivity is also observed in extraocular and skeletal muscle biopsies of control and CFEOM1 patients, where it co-localizes with triadin, a marker of the excitation-contractile coupling system.
22465342
2012
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
GeneticVariation
disease
BEFREE
Linkage to the FEOM1 locus could not be excluded in our family, but mutation in KIF21A , a major cause of the CFEOM1 phenotype, was not detected.
17551929
2007
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
Biomarker
disease
BEFREE
We have previously determined that a CFEOM1 gene maps to the FEOM1 locus on chromosome 12cen.
11882252
2002
×
Entrez Id:
401
Gene Symbol:
PHOX2A
PHOX2A
0.010
Biomarker
disease
BEFREE
We hypothesize that CFEOM2 results from an analogous developmental defect to CFEOM1 , one that affects both the superior and inferior divisions of the oculomotor nerve and their corresponding alpha motoneurons and extraocular muscles.
9683611
1998
×
Entrez Id:
8082
Gene Symbol:
SSPN
SSPN
0.010
GeneticVariation
disease
BEFREE
Sequencing of the sarcospan gene in CFEOM1 patients from 6 families revealed no mutations.
11180757
2001
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
CausalMutation
disease
CLINVAR
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
Biomarker
disease
CTD_human
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
Biomarker
disease
MGD
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
24656932
2014
×
Entrez Id:
10381
Gene Symbol:
TUBB3
TUBB3
0.200
Biomarker
disease
MGD
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
20074521
2010
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
GeneticVariation
disease
UNIPROT
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
16157808
2005
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
GeneticVariation
disease
UNIPROT
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
17511870
2007
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
GeneticVariation
disease
UNIPROT
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
24715754
2014
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
GeneticVariation
disease
UNIPROT
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
14595441
2003
×
Entrez Id:
55605
Gene Symbol:
KIF21A
KIF21A
0.970
Biomarker
disease
GENOMICS_ENGLAND
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
18332320
2008