title: Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
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 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.
authors.affiliation: Department of Genetics, Case Western Reserve University School of Medicine and the Center for Human Genetics, University Hospitals of Cleveland, USA.
authors.forename: D A
authors.initials: DA
authors.lastname: Sirko-Osadsa
authors.forename: M A
authors.initials: MA
authors.lastname: Murray
authors.forename: J A
authors.initials: JA
authors.lastname: Scott
authors.forename: M A
authors.initials: MA
authors.lastname: Lavery
authors.forename: M L
authors.initials: ML
authors.lastname: Warman
authors.forename: N H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D002675:Child, Preschool; D003094:Collagen / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000235:genetics*; D005091:Exons; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D003094:Collagen