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

1998; Elsevier BV; Volume: 132; Issue: 2 Linguagem: Inglês

10.1016/s0022-3476(98)70466-4

1097-6833

D. Alexa Sirko-Osadsa, Melissa Murray, Jennifer A. Scott, Mary Ann Lavery, Matthew L. Warman, Nathaniel H. Robin,

Hypertrophic osteoarthropathy and related conditions

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