Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
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 theta = 0.05 and for CRTL1 of -7.28 at theta = 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.
Hecht
J T
JT
Medical School, University of Texas Health Science Center, Houston.
Blanton
S H
SH
Wang
Y
Y
Daiger
S P
SP
Horton
W A
WA
Rhodes
C
C
Yamada
Y
Y
Francomano
C A
CA
D003094:Collagen / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011509:Proteoglycans / Q000235:genetics*
D011509:Proteoglycans; D003094:Collagen