Branchio-Oculo-Facial Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
(2019) use direct reprogramming, epigenetics, and chromatin architecture studies to demonstrate that developmental defects observed in a BOFS patient are caused by reduced expression of TFAP2A in neural crest cells due to the spatial separation of the promoter from its neural crest enhancers.
|
31051129 |
2019 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a BOFS patient carrying a heterozygous inversion with one breakpoint located within a topologically associating domain (TAD) containing enhancers essential for TFAP2A expression in human neural crest cells (hNCCs).
|
30982769 |
2019 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome).
|
26332872 |
2016 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of the coding region of the TFAP2A gene revealed missense mutations in four BOFS patients.
|
25590586 |
2015 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Branchio-oculo-facial syndrome (BOFS) is a craniofacial disorder caused by TFAP2A mutations.
|
23307527 |
2013 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, it remains unclear if all BOFS mutations result in similar changes to the AP-2α protein or if they each produce specific alterations that underlie the spectrum of phenotypes.
|
23578821 |
2013 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS.
|
23541344 |
2013 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
TFAP2A has been seen involved in orofacial development in mice; it is located in the NSCLP candidate region 6p24; it codes for a transcription factor which regulates expression of IRF6, a gene implied in NSCLP; finally, it is embroiled in the branchiooculofacial syndrome, that includes clefting as feature.
|
21781438 |
2013 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the TFAP2A gene associated with BOFS (heterozygous H384Y in exon 7) was found in both the proband and her mother.
|
22191992 |
2012 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome.
|
22276601 |
2012 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TFAP2A gene have been reported in patients with BOFS, prompting phenotype-genotype studies because of the variable clinical spectrum.
|
21728810 |
2011 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome.
|
21250552 |
2010 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients.
|
20358615 |
2010 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.
|
20461149 |
2010 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Second, we determined that TFAP2A is expressed in the lens, neural retina, nasal process, and epithelial lining of the oral cavity and palatal shelves of human and mouse embryos--sites consistent with the phenotype observed in patients with BOFS.
|
19685247 |
2009 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Second, we determined that TFAP2A is expressed in the lens, neural retina, nasal process, and epithelial lining of the oral cavity and palatal shelves of human and mouse embryos--sites consistent with the phenotype observed in patients with BOFS.
|
19685247 |
2009 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome.
|
19206157 |
2009 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
|
19764023 |
2009 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Second, we determined that TFAP2A is expressed in the lens, neural retina, nasal process, and epithelial lining of the oral cavity and palatal shelves of human and mouse embryos--sites consistent with the phenotype observed in patients with BOFS.
|
19685247 |
2009 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We conclude BOFS is caused by mutations involving TFAP2A.
|
18423521 |
2008 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
We conclude BOFS is caused by mutations involving TFAP2A.
|
18423521 |
2008 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We conclude BOFS is caused by mutations involving TFAP2A.
|
18423521 |
2008 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude BOFS is caused by mutations involving TFAP2A.
|
18423521 |
2008 |
Branchio-Oculo-Facial Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.
|
10767004 |
2000 |