A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

@article{Jabs1993AMI,
  title={A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis},
  author={Ethylin Wang Jabs and Ulrich M{\"u}ller and Xiang Li and Liang Ma and Wen Luo and Ian S. Haworth and Ivana Klisak and Robert S. Sparkes and Matthew L. Warman and John Butler Mulliken and Malcolm L. Snead and Robert E. Maxson},
  journal={Cell},
  year={1993},
  volume={75},
  pages={443-450}
}
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish
TLDR
Direct DNA sequencing of both exons of the MSX1 gene in five affected individuals segregating with the EVC phenotype, as well as those of two obligate carriers, revealed no mutations in the coding region of the gene.
A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10
TLDR
To map the gene responsible for CFD, a mapping strategy of testing for linkage to known developmental genes is used, finding the developmental gene, PAX2, located within this region, is an attractive candidate gene.
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
TLDR
It is suggested that PFM and craniosynostosis result, respectively, from loss and gain of activity in an MSX2-mediated pathway of calvarial osteogenic differentiation.
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
TLDR
Mental retardation, apparently unrelated to the management of the craniosynostosis, appears to be a variable clinical consequence of this FGFR3 mutation.
Boston type craniosynostosis: Report of a second mutation in MSX2
TLDR
Data confirm that missense mutations altering the proline at codon 148 of MSX2 cause dominantly inherited craniosynostosis.
Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes
TLDR
The pairwise lod-scores regarding the intragenic microsatellites in the MSX1 and MSX2 genes at a recombination fraction of 0.0 were -3.1 and 3.0, thus excluding these genes as causative loci for hypodontia in these families.
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
TLDR
Sequence analysis showed that in four out of five families an MSX2 mutation was responsible for the skull defect in FPP, and it appears that FPP is caused by haplo-insufficiency of the MSx2 gene.
Cloning and chromosomal localization of the human BARX2 homeobox protein gene.
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
TLDR
Direct sequencing has revealed specific mutations in the B exon of FGFR2 in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.
The roles of the homeobox genes ALX4 and MSX2 in skull development
TLDR
Analysis of compound mutants demonstrated that the two loci exert roughly additive effects on the skull vault while protein interaction assays did not indicate any physiological interaction between Alx4 and Msx2, which appears to regulate proliferation, differentiation, or survival of osteoblast precursors and pre-osteoblasts through parallel pathways.
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TLDR
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