Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
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.
Sirko-Osadsa
D A
DA
Department of Genetics, Case Western Reserve University School of Medicine and the Center for Human Genetics, University Hospitals of Cleveland, USA.
Murray
M A
MA
Scott
J A
JA
Lavery
M A
MA
Warman
M L
ML
Robin
N H
NH
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
D003094:Collagen