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

J Pediatr. 1998 Feb;132(2):368-71. doi: 10.1016/s0022-3476(98)70466-4.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child, Preschool
  • Collagen / genetics*
  • Connective Tissue Diseases / genetics*
  • Exons
  • Eye Diseases / genetics
  • Female
  • Gene Deletion
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Syndrome


  • Collagen