caa a22 4500 397574010 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.9.1339 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.9.1339 A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen [Elektronische Daten] [Allan J. Richards, John R. W. Yates, Rebecca Williams, Stewart J. Payne, F. Michael Pope, John D. Scott, Martin P. Snead] Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of families linked to the gene encoding type II procollagen (COL2A1). Families with Sticklers syndrome type 1 have a characteristic congenital vitreous anomaly and are linked without recombination to markers at the COL2A1 locus. In contrast families with the type 2 variety have a different vitreo-retinal phenotype and are not linked to the COL2A1 gene. Type XI collagen is a quantitatively minor fibrillar collagen related to type V collagen and associated with the more abundant type II collagen fibrils. A mutation in COL11A2, the gene for α2 (XI) procollagen, has recently been found in a family described as having Stickler syndrome, although there was no ocular involvement. Here we show for the first time that a family with the full Type 2 Stickler syndrome including vitreous and retinal abnormalities is linked to the COL11A1 gene and characterise the mutation as a Glycine to Valine substitution at position 97 of the triple helical domain caused by a single base G→T mutation. These results are the first to provide confirmation that type XI collagen is an important structural component of human vitreous. They also support previous work suggesting that mutations in the genes encoding collagen XI can give rise to some manifestations of Stickler syndrome, but of these, only mutations in COL11A1 will give the full syndrome including the vi-treo-retinal features. © 1996 Oxford University Press Richards Allan J. Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK aut Yates John R. W. Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK aut Williams Rebecca Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK aut Payne Stewart J. Molecular Genetics Laboratory, Addenbrooke's NHS Trust, Hills Road, Cambridge CB2 2QQ, UK aut Michael Pope F. Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK aut Scott John D. Vitreo-retinal Service, Addenbrooke's NHS Trust, Hills Road, Cambridge CB2 2QQ, UK aut Snead Martin P. Molecular Genetics Laboratory, Addenbrooke's NHS Trust, Hills Road, Cambridge CB2 2QQ, UK aut Human Molecular Genetics Oxford University Press 5/9(1996-09), 1339-1343 0964-6906 5:9<1339 1996 5 hmg https://doi.org/10.1093/hmg/5.9.1339 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.9.1339 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Richards Allan J. Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK aut NATIONALLICENCE 700 1- Yates John R. W. Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK aut NATIONALLICENCE 700 1- Williams Rebecca Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK aut NATIONALLICENCE 700 1- Payne Stewart J. Molecular Genetics Laboratory, Addenbrooke's NHS Trust, Hills Road, Cambridge CB2 2QQ, UK aut NATIONALLICENCE 700 1- Michael Pope F. Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK aut NATIONALLICENCE 700 1- Scott John D. Vitreo-retinal Service, Addenbrooke's NHS Trust, Hills Road, Cambridge CB2 2QQ, UK aut NATIONALLICENCE 700 1- Snead Martin P. Molecular Genetics Laboratory, Addenbrooke's NHS Trust, Hills Road, Cambridge CB2 2QQ, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/9(1996-09), 1339-1343 0964-6906 5:9<1339 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford