Craniofrontonasal dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS.
|
15959873 |
2005 |
Craniofrontonasal dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Although EFNB1 is X-inactivated, we did not observe markedly skewed X-inactivation in either blood or cranial periosteum from females with CFNS, indicating that lack of ephrin-B1 does not compromise cell viability in these tissues.
|
15166289 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Craniofrontonasal dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Hence, we propose that X-linked cases resembling Teebi hypertelorism may have a similar mechanism to CFNS, and that cellular mosaicism for different levels of ephrin-B1 (as well as simple presence/absence) leads to craniofacial abnormalities.
|
21542058 |
2011 |
Craniofrontonasal dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here, by generating hiPSCs from CFNS patients, we demonstrate that mosaicism for EPHRIN-B1 expression induced by random X inactivation in heterozygous females results in robust cell segregation in human neuroepithelial cells, thus supplying experimental evidence that Eph/ephrin-mediated cell segregation is relevant to pathogenesis in human CFNS patients.
|
28238796 |
2017 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the ephrin A4 (EFNA4) and ephrin B1 (EFNB1) ligands have been linked to nonsyndromic CS and craniofrontonasal syndrome, respectively, in patient samples.
|
28135115 |
2018 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because the encoded protein ephrin-B1 is involved in migration of neural crest cells we propose that CFNS is a novel type of neurocrestopathy.
|
16143553 |
2006 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
CTD_human |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Craniofrontonasal syndrome (CFNS [MIM 304110]) is an X-linked malformation syndrome characterized by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females.
|
17941886 |
2007 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Upon clonal expansion of patient cells with either the wild-type or mutant EFNB1 on the active X-chromosome, we were able to separate mutant and wild-type EFNB1-expressing cells in vitro, further supporting the concept of cellular interference in CFNS.
|
18043713 |
2008 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
CTD_human |
Although EFNB1 is X-inactivated, we did not observe markedly skewed X-inactivation in either blood or cranial periosteum from females with CFNS, indicating that lack of ephrin-B1 does not compromise cell viability in these tissues.
|
15166289 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations in X-linked ephrin-B1 in humans cause craniofrontonasal syndrome (CFNS), a disease that affects female patients more severely than males.
|
16968134 |
2006 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
|
24281372 |
2014 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
|
23335590 |
2013 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.
|
20734337 |
2010 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CFNS is caused by mutations in the Ephrin 1 gene (EFNB1) located at Xq13.1, which encodes the transmembrane protein Ephrin B1.
|
31285555 |
2019 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
|
16639408 |
2006 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a CFNS patient with a novel EFNB1 missense mutation present at the interface between EFNB1 and its receptor proteins.
|
17300690 |
2007 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS.
|
15959873 |
2005 |