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

@article{SirkoOsadsa1998SticklerSW,
  title={Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.},
  author={D Alexa Sirko-Osadsa and Mary Ann Murray and Jeremiah A Scott and Mary Lavery and Matthew L Warman and Nathaniel H Robin},
  journal={The Journal of pediatrics},
  year={1998},
  volume={132 2},
  pages={368-71}
}
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… CONTINUE READING

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