Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the ⍺2(XI) chain of type XI collagen - 09/09/11
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 ⍺2(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)
Le texte complet de cet article est disponible en PDF.Abbreviations : RS, SS
Plan
 | From the Departments of Genetics and Ophthalmology, Case Western Reserve University School of Medicine and the Center for Human Genetics, University Hospitals of Cleveland. |
| This work was supported by a Case Western Reserve University School of Medicine Research Initiation Grant, NIH grant AR-43827, and an Arthritis Investigator Award from the Arthritis Foundation. |
 | Reprint requests: Matthew L. Warman, MD, Genetics, BRB-719, 2109 Adelbert Rd., Cleveland, OH 44106. |
| 0022-3476/98/$5.00 + 0 9/22/82865 |
Vol 132 - N° 2
P. 368-371 - février 1998 Retour au numéro
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