Identification of the genetic defect in the original Wagner syndrome family

Molecular Vision

Volumn 12, Issue , 2006, Pages 350-355

  Kloeckener Gruissem, Barbara ^a   Bartholdi, Deborah ^a   Abdou, Marie Therese ^b   Zimmerman, Dieter R ^b   Berger, Wolfgang ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GLYCOSAMINOGLYCAN; GUANINE; PROTEIN EDIL3; PROTEOCHONDROITIN SULFATE; RNA; SCLEROPROTEIN; UNCLASSIFIED DRUG; VERSICAN;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; BLOOD CELL; CHROMOSOME 5Q; CONTROLLED STUDY; EXON; EXTRACELLULAR MATRIX; FAMILY STUDY; GENE DISRUPTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CONSERVATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROGENY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; VITREORETINAL DEGENERATION; VITREOUS BODY;

ADENINE; CASE-CONTROL STUDIES; CHROMOSOME SEGREGATION; DNA, RECOMBINANT; EXONS; EYE DISEASES; FEMALE; GENES, DOMINANT; GUANINE; HETEROZYGOTE; HUMANS; LECTINS, C-TYPE; MALE; PEDIGREE; PHENOTYPE; PROTEOCHONDROITIN SULFATES; RETINAL DEGENERATION; RNA, MESSENGER; SYNDROME; VERSICANS; VITREOUS BODY;

EID: 33645797385     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Fryer AE, Upadhyaya M, Littler M, Bacon P, Watkins D, Tsipouras P, Harper PS. Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet 1990; 27:91-3.
2. Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. Invest Ophthalmol Vis Sci 2005; 46:2726-35.
3. Perveen R, Hart-Holden N, Dixon MJ, Wiszniewski W, Fryer AE, Brunner HG, Pinkners AJ, van Beersum SE, Black GC. 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; 57:219-26.
4. Wagner H. Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich. Klin Monatsbl Augenheilkd 1938; 100:840-58.
5. Zech JC, Morle L, Vincent P, Alloisio N, Bozon M, Gonnet C, Milazzo S, Grange JD, Trepsat C, Godet J, Plauchu H. Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. Graefes Arch Clin Exp Ophthalmol 1999; 237:387-93.
6. Graemiger RA, Niemeyer G, Schneeberger SA, Messmer EP. Wagner vitreoretinal degeneration. Follow-up of the original pedigree. Ophthalmology 1995; 102:1830-9.
7. Brown DM, Graemiger RA, Hergersberg M, Schinzel A, Messmer EP, Niemeyer G, Schneeberger SA, Streb LM, Taylor CM, Kimura AE, Weingeist TA, Sheffield VC, Stone EM. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol 1995; 113:671-5.
8. Naso MF, Zimmermann DR, Iozzo RV. Characterization of the complete genomic structure of the human versican gene and functional analysis of its promoter. J Biol Chem 1994; 269:32999-3008.
9. Bandtlow CE, Zimmermann DR. Proteoglycans in the developing brain: new conceptual insights for old proteins. Physiol Rev 2000; 80:1267-90.
10. Dours-Zimmermann MT, Zimmermann DR. A novel glycosaminoglycan attachment domain identified in two alternative splice variants of human versican. J Biol Chem 1994; 269:32992-8.
11. Zako M, Shinomura T, Ujita M, Ito K, Kimata K. Expression of PG-M(V3), an alternatively spliced form of PG-M without a chondroitin sulfate attachment in region in mouse and human tissues. J Biol Chem 1995; 270:3914-8.
12. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997; 4:311-23.
13. Zhao X, Russell P. Versican splice variants in human trabecular meshwork and ciliary muscle. Mol Vis 2005; 11:603-8.
14. Reardon A, Heinegard D, McLeod D, Sheehan JK, Bishop PN. The large chondroitin sulphate proteoglycan versican in mammalian vitreous. Matrix Biol 1998; 17:325-33.
15. Isogai Z, Aspberg A, Keene DR, Ono RN, Reinhardt DP, Sakai LY. Versican interacts with fibrillin-1 and links extracellular microfibrils to other connective tissue networks. J Biol Chem 2002; 277:4565-72.