Title
Correlation of linkage data with phenotype in eight families with Stickler syndromeCorrelation of linkage data with phenotype in eight families with Stickler syndrome
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
New York, N.Y.,
Subject
Human medicine
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Volume/pages
80(1998):2, p. 121-127
ISSN
0148-7299
ISI
000076615600006
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The manifestations of the affected individuals were similar to those of the original Stickler syndrome family [Stickler et al., Mayo. Clin. Proc. 40:433455, 1965] and resembled the phenotype of the previously reported individuals or families with Stickler syndrome in which a dominant mutation in the COL2A1 gene has been identified. Linkage to COL2A1 was excluded in the two remaining families. The most striking difference between these two types of families was the absence of severe myopia and retinal detachment in the two unliked families. In the COL2A1 unlinked families, linkage of the phenotype to genes (COL11A1 and COL11A2) that encode proα chains of type XI collagen, a minor cartilage-specific collagen, was also excluded. Since Stickler syndrome can be produced by mutations in COL2A1, COL11A1, and COL11A2, our data suggest that there is at least a fourth locus for Stickler syndrome.
E-info
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