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© 1994 Oxford University Press

OTHER

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

Han G. Brunner*, Sylvia E.C. van Beersum, Matt L. Warman1, Bjorn R. Olsen1, Hans-Hilger Ropers and Edwin C.M. Mariman

Department of Human Genetics, University Hospital PO Box 9101, 6500 HB Nijmegen, the Netherlands 1Department of Cell Biology, Harvard Medical School 240 Longwood Avenue, Boston, MA 02115, USA

*To whom correspondence should be addressed

Received March 21, 1994; Revised June 21, 1994; Accepted June 21, 1994

Stickler syndrome (hereditary arthro-ophthalmopathy) is caused by mutations in the structural gene for collagen type II (COL2A1) in approximately 50% of cases. In the other families with this syndrome, the genetic defect is unknown. We have performed linkage analysis in a large Dutch kindred with a Stickler syndrome phenotype that was unlinked to COL2A1. As an initial strategy, we tested polymorphisms that are within or near genes encoding other cartilage collagens. Close linkage was demonstrated with polymorphic markers from 6p22 to 6p21.3. The highest lod score was 4.36 without recombination with D6S276. Since COL11A2 has also been localized to this chromosome region, a mutation in this collagen gene is an attractive explanation for the Stickler syndrome phenotype in this family. These data support the hypothesis that abnormalities of type XI collagen may be involved in inherited osteochondrodysplasias, such as Stickler syndrome.


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