Spondyloperipheral dysplasia
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| Spondyloperipheral dysplasia | |
|---|---|
| Other names | Spondyloperipheral dysplasia-short ulna syndrome |
 | |
| Spondyloperipheral dysplasia has an autosomal dominant pattern of inheritance. | |
Spondyloperipheral dysplasia is an
Genetics
Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules. The protein made by the altered COL2A1 gene cannot be used to make type II collagen, resulting in a reduced amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal protein builds up in cartilage cells (
The disorder is believed to be inherited in an autosomal dominant manner.[1] This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 12 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
Diagnosis
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Management
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References
- ^ PMID 8723097.
- ^ Online Mendelian Inheritance in Man (OMIM): 120140
This article incorporates public domain text from Spondyloperipheral dysplasia at
External links
- Spondyloperipheral dysplasia short ulna at NIH's Office of Rare Diseases