Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2 (XI) chain of type XI collagen

Academic Article

Abstract

  • 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 α2(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.
  • Published In

    Digital Object Identifier (doi)

    Author List

  • Sirko-Osadsa DA; Murray MA; Scott JA; Lavery MA; Warman ML; Robin NH
  • Start Page

  • 368
  • End Page

  • 371
  • Volume

  • 132
  • Issue

  • 2