Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome

European Journal of Human Genetics

Volumn 21, Issue 3, 2013, Pages 352-356

  Kloeckener Gruissem, Barbara ^a,b   Neidhardt, John ^a   Magyar, István ^a   Plauchu, Henri ^c   Zech, Jean Christophe ^d   Morlé, Laurette ^e   Palmer Smith, Sheila M ^f   MacDonald, Moira J ^f   Nas, Véronique ^g   Fry, Andrew E ^f   Berger, Wolfgang ^a,b  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b ETH ZURICH   (Switzerland)

^c UNIVERSITÉ LYON 1   (France)

^d Kleber Center of Ophthalmology   (France)

^e UNIVERSITÉ DE LYON   (France)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

erosive vitreoretinopathy; splicing; VCAN; Wagner syndrome

Indexed keywords

RNA; VERSICAN;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; FEMALE; FRANCE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN MODIFICATION; RNA ANALYSIS; SKIN FIBROBLAST; UNITED KINGDOM; VENOUS BLOOD; VITREORETINOPATHY; WAGNER DISEASE;

ALTERNATIVE SPLICING; EYE DISEASES; FEMALE; FIBROBLASTS; HUMANS; MALE; MUTATION; PEDIGREE; SYNDROME; VERSICANS;

EID: 84874113195     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.137     Document Type: Article

References (22)

1. Kloeckener-Gruissem B, Amstutz C: VCAN-related vitreoretinopathy; in Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds): Gene Reviews. Seattle (WA): University of Washington, 2009.
2. Jansen LM: Retinopathy after nivaquine treatment. Ophthalmologica 1962; 144: 438-444.
3. Miyamoto T, Inoue H, Sakamoto Y et al: Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. Invest Ophthalmol Vis Sci 2005; 46: 2726-2735.
4. Zhao X, Russell P: Versican splice variants in human trabecular meshwork and ciliary muscle. Mol Vis 2005; 11: 603-608.
5. Theocharis DA, Skandalis SS, Noulas AV et al: Hyaluronan and chondroitin sulfate proteoglycans in the supramolecular organization of the mammalian vitreous body. Connect Tissue Res 2008; 49: 124-128.
6. Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W: Identification of the genetic defect in the original Wagner syndrome family. Mol Vis 2006; 12: 350-355.
7. Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP: Clinical characterisation and molecular analysis of Wagner syndrome. Br J Ophthalmol 2007; 91: 655-659.
8. Mukhopadhyay A, Nikopoulos K, Maugeri A et al: Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci 2006; 47: 3565-3572.
9. Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL: Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. Arch Ophthalmol 2009; 127: 1511-1519.
10. Brezin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S: A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. Mol Vis 2011; 17: 1669-1678.
11. Fryer AE, Upadhyaya M, Littler M et al: Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet 1990; 27: 91-93.
12. Perveen R, Hart-Holden N, Dixon MJ et al: Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2-to 2.5-cM region of chromosome 5q14.3. Genomics 1999; 57: 219-226.
13. Zech JC, Morle L, Vincent P et al: Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. Graefes Arch Clin Exp Ophthalmol 1999; 237: 387-393.
14. Glaus E, Schmid F, Da Costa R, Berger W, Neidhardt J: Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Mol Ther 2011; 19: 936-941.
15. Robinson DO, Lin F, Lyon M et al: Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities. Clin Genet 2011; e-pub ahead of print September 6 2011; doi:10.1111/j.1399-0004.2011.01781.x.
16. Livak KJ, Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001; 25: 402-408.
17. Brunak S, Engelbrecht J, Knudsen S: Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 1991; 220: 49-65.
18. Bode-Lesniewska B, Dours-Zimmermann MT, Odermatt BF, Briner J, Heitz PU, Zimmermann DR: Distribution of the large aggregating proteoglycan versican in adult human tissues. J Histochem Cytochem 1996; 44: 303-312.
19. Theocharis AD, Papageorgakopoulou N, Feretis E, Theocharis DA: Occurrence and structural characterization of versican-like proteoglycan in human vitreous. Biochimie 2002; 84: 1237-1243.
20. Ponsioen TL, Hooymans JM, Los LI: Remodelling of the human vitreous and vitreoretinal interface-a dynamic process. Prog Retin Eye Res 2010; 29: 580-595.
21. Lemire JM, Merrilees MJ, Braun KR, Wight TN: Overexpression of the V3 variant of versican alters arterial smooth muscle cell adhesion, migration, and proliferation in vitro. J Cell Physiol 2002; 190: 38-45.
22. Lima BL, Santos EJ, Fernandes GR et al: A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression. PLoS One 2010; 5: e14136.