|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
We found previously that a single amino acid substitution in the homeodomain of the human MSX2 gene is associated with the autosomal dominant disorder craniosynostosis, Boston type.
|
9917362 |
1999 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the homeotic gene MSX2 was the first genetic defect identified in an autosomal dominant primary craniosynostosis, i.e. in craniosynostosis type 2 (Boston type).
|
9342602 |
1997 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MSX2 is a homeodomain transcription factor that has been implicated in craniofacial morphogenesis on the basis of its expression pattern during mouse development and the finding of a missense mutation (P148H) in humans affected with Boston-type craniosynostosis.
|
9147639 |
1997 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences.
|
8968743 |
1996 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
|
8106171 |
1993 |
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Parietal Foramina With Cleidocranial Dysplasia
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
|
23918290 |
2013 |
|
Parietal Foramina With Cleidocranial Dysplasia
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PFMCCD is indeed aetiologically distinct from CCD, which is caused by mutations in the RUNX2 gene, but allelic with isolated PFM, in which MSX2 mutations were previously identified.
|
14571277 |
2003 |
|
Parietal Foramina With Cleidocranial Dysplasia
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
|
14571277 |
2003 |
|
Parietal Foramina With Cleidocranial Dysplasia
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Parietal Foramina With Cleidocranial Dysplasia
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Parietal Foramina With Cleidocranial Dysplasia
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Parietal Foramina With Cleidocranial Dysplasia
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We classified the other positive diagnoses as follows: commonly mutated craniosynostosis genes with atypical presentation (<i>EFNB1</i>, <i>TWIST1</i>); other core craniosynostosis genes (<i>CDC45</i>, <i>MSX2, ZIC1</i>); genes for which mutations are only rarely associated with craniosynostosis (<i>FBN1</i>, <i>HUWE1</i>, <i>KRAS</i>, <i>STAT3</i>); and known disease genes for which a causal relationship with craniosynostosis is currently unknown (<i>AHDC1</i>, <i>NTRK2</i>).
|
27884935 |
2017 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The patient disclosed an intragenic duplication of the entire MSX2 gene whereas no mutation was identified in any major genes known to be involved in craniosynostosis.
|
24666290 |
2015 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These data confirm that missense mutations altering the proline at codon 148 of MSX2 cause dominantly inherited craniosynostosis.
|
23949913 |
2013 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Molecular analysis of MSX2 should therefore be considered in patients with isolated scaphocephaly/unicoronal synostosis, especially in the presence of a family history for craniosynostosis or syndactyly.
|
23918290 |
2013 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
|
PARIETAL FORAMINA 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
|
23918290 |
2013 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Increased copies of MSX2 have been previously associated with craniosynostosis.
|
21567924 |
2011 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway.
|
21082653 |
2010 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our case further supports the role of MSX2 duplication in the etiology of craniosynostosis.
|
19533795 |
2009 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our results support the previous finding that distal 5q-trisomy together with an extra copy of the MSX2 gene leads to abnormal closure of sutures and craniosynostosis.
|
17955513 |
2007 |