| Symbol
| CRS2
|
| Location
| 5q35.2
|
| Name
|
craniosynostosis, syndromatic 2 |
| Other name(s)
|
Boston-type craniosynostosis |
| Corresponding gene
|
MSX2
|
| Main clinical features
|
primary, with a phenotypic spectrum ranging from frontal bossing only to cloverleaf skull |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| osteo-articular |
|
| congenital malformation |
| Type
| disease
|
| Name
| homeo domain encoding gene (MSX2)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
| abnormal protein/gain of function
| Pro148His, enhancing the DNA binding properties of the gene
| |
| Remark(s)
|
mutation P148H results in an increased susceptibility of both wild type and mutant MSX2 to proteasomal degradation
craniosynostosis results from the enhanced ubiquitin-dependent degradation of MSX2, which functions in the maintenance of the suture space through the stimulation of osteoprogenitor cell proliferation and the inhibition of mineralization |