Abstract
Patients with pseudoachondroplasia have a skeletal dysplasia with marked short stature. The most common cause of this condition is an autosomal dominant mutation, although autosomal recessive inheritance has been reported. Linkage to 2 cartilage-specific candidate genes, type II collagen (COL2A1) and proteoglycan link protein genes (CRTL1), was tested in 9 autosomal dominant families with pseudoachondroplasia. Tight linkage to these candidate genes was excluded with LOD scores for COL2A1 of -2.45 at θ = 0.05 and for CRTL1 of -7.28 at θ = 0.001. Discordant inheritance of the disease phenotype with each of these genes was also observed. Thus, these 2 candidate genes can be excluded as the cause of disease in these families.
Original language | English (US) |
---|---|
Pages (from-to) | 420-424 |
Number of pages | 5 |
Journal | American journal of medical genetics |
Volume | 44 |
Issue number | 4 |
DOIs | |
State | Published - 1992 |
Externally published | Yes |
Keywords
- COL2A1
- CRTL1
- PCR
- collagen
- dwarfism
- linkage
- proteoglycan link protein
- proteoglycans
- pseudoachondroplasia
- short stature
- type II collagen
ASJC Scopus subject areas
- Genetics(clinical)