Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (113)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Richards, A. J.
Right arrow Articles by Snead, M. P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Richards, A. J.
Right arrow Articles by Snead, M. P.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 5, 1339-1343, Copyright © 1996 by Oxford University Press

ARTICLES

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

AJ Richards, JR Yates, R Williams, SJ Payne, FM Pope, JD Scott and MP Snead
Department of Pathology, University of Cambridge, UK.

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 alpha 2 (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 vitreo-retinal features.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Pharmacol. Rev.Home page
H. Jarvelainen, A. Sainio, M. Koulu, T. N. Wight, and R. Penttinen
Extracellular Matrix Molecules: Potential Targets in Pharmacotherapy
Pharmacol. Rev., June 1, 2009; 61(2): 198 - 223.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
W. Halfter
Change in Embryonic Eye Size and Retinal Cell Proliferation following Intravitreal Injection of Glycosaminoglycans
Invest. Ophthalmol. Vis. Sci., August 1, 2008; 49(8): 3289 - 3298.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
W. Halfter, U. Winzen, P. N. Bishop, and A. Eller
Regulation of eye size by the retinal basement membrane and vitreous body.
Invest. Ophthalmol. Vis. Sci., August 1, 2006; 47(8): 3586 - 3594.
[Abstract] [Full Text] [PDF]

Home page
 FASEB J.Home page
A. G. Marneros and B. R. Olsen
Physiological role of collagen XVIII and endostatin
FASEB J, May 1, 2005; 19(7): 716 - 728.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
A. J. Richards, S. Meredith, A. Poulson, P. Bearcroft, G. Crossland, D. M. Baguley, J. D. Scott, and M. P. Snead
A Novel Mutation of COL2A1 Resulting in Dominantly Inherited Rhegmatogenous Retinal Detachment
Invest. Ophthalmol. Vis. Sci., February 1, 2005; 46(2): 663 - 668.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
X. Jiao, R. Ritter III, J. F. Hejtmancik, and A. O. Edwards
Genetic Linkage of Snowflake Vitreoretinal Degeneration to Chromosome 2q36
Invest. Ophthalmol. Vis. Sci., December 1, 2004; 45(12): 4498 - 4503.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
A V Poulson, J M M Hooymans, A J Richards, P Bearcroft, R Murthy, D M Baguley, J D Scott, and M P Snead
Clinical features of type 2 Stickler syndrome
J. Med. Genet., August 1, 2004; 41(8): e107 - e107.
[Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. Koch, F. Laub, P. Zhou, R. A. Hahn, S. Tanaka, R. E. Burgeson, D. R. Gerecke, F. Ramirez, and M. K. Gordon
Collagen XXIV, a Vertebrate Fibrillar Collagen with Structural Features of Invertebrate Collagens: SELECTIVE EXPRESSION IN DEVELOPING CORNEA AND BONE
J. Biol. Chem., October 31, 2003; 278(44): 43236 - 43244.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
S. L. Go, A. Maugeri, J. J. S. Mulder, M. A. van Driel, F. P. M. Cremers, and C. B. Hoyng
Autosomal Dominant Rhegmatogenous Retinal Detachment Associated with an Arg453Ter Mutation in the COL2A1 Gene
Invest. Ophthalmol. Vis. Sci., September 1, 2003; 44(9): 4035 - 4043.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
P. Paluru, S. M. Ronan, E. Heon, M. Devoto, S. C. Wildenberg, G. Scavello, A. Holleschau, O. Makitie, W. G. Cole, R. A. King, et al.
New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17
Invest. Ophthalmol. Vis. Sci., May 1, 2003; 44(5): 1830 - 1836.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. Braybrook, S. Lisgo, K. Doudney, D. Henderson, A. C. B. Marcano, T. Strachan, M. A. Patton, L. Villard, G. E. Moore, P. Stanier, et al.
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients
Hum. Mol. Genet., October 15, 2002; 11(22): 2793 - 2804.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. C. Morton
Genetics, genomics and gene discovery in the auditory system
Hum. Mol. Genet., May 15, 2002; 11(10): 1229 - 1240.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. L. Sertie, V. Sossi, A. A. Camargo, M. Zatz, C. Brahe, and M. R. Passos-Bueno
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
Hum. Mol. Genet., August 12, 2000; 9(13): 2051 - 2058.
[Abstract] [Full Text] [PDF]

Home page
 Arch Otolaryngol Head Neck SurgHome page
A. J. Griffith, S. S. Gebarski, N. T. Shepard, and P. R. Kileny
Audiovestibular Phenotype Associated With a COL11A1 Mutation in Marshall Syndrome
Arch Otolaryngol Head Neck Surg, July 1, 2000; 126(7): 891 - 894.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J FABER, A WINTERPACHT, B ZABEL, W GNOINSKI, A SCHINZEL, B STEINMANN, and A SUPERTI-FURGA
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling
J. Med. Genet., April 1, 2000; 37(4): 318 - 320.
[Full Text]

Home page
 Br J OphthalmolHome page
A. J Richards, S. Martin, J. R W Yates, J. D Scott, D. M Baguley, F M. Pope, and M. P Snead
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes
Br J Ophthalmol, April 1, 2000; 84(4): 364 - 371.
[Abstract] [Full Text]

Home page
 J. Biol. Chem.Home page
U. K. Blaschke, E. F. Eikenberry, D. J. S. Hulmes, H.-J. Galla, and P. Bruckner
Collagen XI Nucleates Self-assembly and Limits Lateral Growth of Cartilage Fibrils
J. Biol. Chem., March 31, 2000; 275(14): 10370 - 10378.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J. A GUGGENHEIM, G. KIROV, and S. A HODSON
The heritability of high myopia: a reanalysis of Goldschmidt's data
J. Med. Genet., March 1, 2000; 37(3): 227 - 231.
[Full Text]

Home page
 Rheumatology (Oxford)Home page
Z. Mustafa, K. Chapman, C. Irven, A. J. Carr, K. Clipsham, J. Chitnavis, J. S. Sinsheimer, V. A. Bloomfield, M. McCartney, O. Cox, et al.
Linkage analysis of candidate genes as susceptibility loci for osteoarthritis--suggestive linkage of COL9A1 to female hip osteoarthritis
Rheumatology, March 1, 2000; 39(3): 299 - 306.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
S. Murakami, V. Lefebvre, and B. de Crombrugghe
Potent Inhibition of the Master Chondrogenic Factor Sox9 Gene by Interleukin-1 and Tumor Necrosis Factor-alpha
J. Biol. Chem., February 4, 2000; 275(5): 3687 - 3692.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M. P Snead and J. R W Yates
Clinical and molecular genetics of Stickler syndrome
J. Med. Genet., May 1, 1999; 36(5): 353 - 359.
[Abstract] [Full Text]

Home page
 Genome ResHome page
B. J. B. Keats and C. I. Berlin
Genomics and Hearing Impairment
Genome Res., January 1, 1999; 9(1): 7 - 16.
[Abstract] [Full Text]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.