|
PARIETAL FORAMINA
|
0.850 |
GermlineCausalMutation
|
disease |
ORPHANET |
We conclude that PFM caused by mutations in ALX4 and MSX2 have a similar prevalence and are usually clinically indistinguishable.
|
16319823 |
2006 |
|
PARIETAL FORAMINA
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
The combination of multiple exostoses (EXT) and enlarged parietal foramina (foramina parietalia permagna, FPP) represent the main features of the proximal 11p deletion syndrome (P11pDS), a contiguous gene syndrome (MIM 601224) caused by an interstitial deletion on the short arm of chromosome 11.
|
14872200 |
2004 |
|
PARIETAL FORAMINA
|
0.850 |
Biomarker
|
disease |
BEFREE |
Our observations highlight the role of MSX2 in clavicular development and the importance of radiological examination of the clavicles in subjects with PFM.
|
14571277 |
2003 |
|
PARIETAL FORAMINA
|
0.850 |
Biomarker
|
disease |
MGD |
Whisker-related neural patterns develop normally despite severe whisker defects in Msx2 knockout mice.
|
11744114 |
2001 |
|
PARIETAL FORAMINA
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in MSX2 are responsible for an autosomal dominant form of parietal foramina (PFM).
|
11017806 |
2000 |
|
PARIETAL FORAMINA
|
0.850 |
Biomarker
|
disease |
MGD |
Most Msx2-mutant phenotypes, including calvarial defects, are enhanced by genetic combination with Msx1 loss of function, indicating that Msx gene dosage can modify expression of the PFM phenotype.
|
10742104 |
2000 |
|
PARIETAL FORAMINA
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.
|
10767351 |
2000 |
|
PARIETAL FORAMINA
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the ALX4 gene in three unrelated FPP families without the MSX2 mutation identified mutations in two families, indicating that mutations in ALX4 could be responsible for these skull defects and suggesting further genetic heterogeneity of FPP.
|
11106354 |
2000 |
|
PARIETAL FORAMINA
|
0.850 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
PARIETAL FORAMINA
|
0.850 |
Biomarker
|
disease |
HPO |
|
|
|
|
PARIETAL FORAMINA
|
0.850 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2.
|
23949913 |
2013 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2.
|
23949913 |
2013 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
|
23918290 |
2013 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2.
|
23949913 |
2013 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis revealed a missense mutation in the MSX2-associated with the Boston-type craniosynostosis syndrome-affecting the same amino-acid residue as in the original Boston family.
|
23918290 |
2013 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
|
23918290 |
2013 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
|
23918290 |
2013 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation.
|
18786927 |
2008 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An extra copy of the MSX2 gene, which maps within the duplicated segment and is mutated in Boston-type craniosynostosis, was confirmed by molecular cytogenetic studies.
|
18000908 |
2007 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human homeobox-containing gene, Msx2, have been shown to cause Boston type craniosynostosis, and we have shown that overexpression of Msx2 leads to craniosynostosis in mice.
|
12674336 |
2003 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
|
14571277 |
2003 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By contrast,Saethre-Chotzen syndrome and craniosynostosis (Boston-type) arise from mutations in the Twist and muscle segment homeobox 2 (MSX2) transcription factors, respectively.
|
14987407 |
2003 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It has previously been shown that a missense mutation of Msx2 (P148H) causes Boston-type craniosynostosis in humans.
|
11683913 |
2001 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.
|
10767351 |
2000 |