Correlation of linkage data with phenotype in eight families with Stickler syndrome

Wilkin, Douglas J.; Mortier, Geert R.; Johnson, Carey L.; Jones, Marilyn C.; De Paepe, Anne; Shohat, Mordechai; Wildin, Robert S.; Falk, Rena E.; Cohn, Daniel H.

doi:10.1002/(SICI)1096-8628(19981102)80:2<121::AID-AJMG6>3.0.CO;2-M

Title

Correlation of linkage data with phenotype in eight families with Stickler syndrome

Author

Wilkin, Douglas J.

Mortier, Geert R.

Johnson, Carey L.

Jones, Marilyn C.

De Paepe, Anne

Shohat, Mordechai

Wildin, Robert S.

Falk, Rena E.

Cohn, Daniel H.

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.

Language

English

Source (journal)

American journal of medical genetics. - New York, N.Y., 1977 - 2002

Publication

New York, N.Y. : 1998

ISSN

0148-7299

DOI

10.1002/(SICI)1096-8628(19981102)80:2<121::AID-AJMG6>3.0.CO;2-M

10.1002/(SICI)1096-8628(19981102)80:2<121::AID-AJMG6>3.3.CO;2-D

Volume/pages