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J Pediatr. 1998 Feb;132(2):368-71.

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

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Department of Genetics, Case Western Reserve University School of Medicine and the Center for Human Genetics, University Hospitals of Cleveland, USA.


Eye involvement has been considered a principal component feature in Stickler syndrome. However, families lacking eye involvement have been reported. We describe such a family and show that their phenotype is due to a heterozygous 27 basepair deletion in the gene COL11A2, which encodes the alpha2(XI) chain of type XI collagen. This is the second family in whom a COL11A2 mutation has been found to cause Stickler syndrome without eye involvement. This result confirms the role of COL11A2 in the etiopathogenesis of this disorder.

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