Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome

Archives of Ophthalmology

Volumn 127, Issue 11, 2009, Pages 1511-1519

  Ronan, Shawn M ^a   Tran Viet, Khanh Nhat ^b   Burner, Erica L ^a,b   Metlapally, Ravikanth ^a,b   Toth, Cynthia A ^a   Young, Terri L ^a,b  

^a DUKE UNIVERSITY EYE CENTER   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHONDROITIN SULFATE PROTEOGLYCAN 2; GENOMIC DNA; PROTEOCHONDROITIN SULFATE; UNCLASSIFIED DRUG; COL2A1 PROTEIN, HUMAN; COLLAGEN TYPE 2; DNA; VCAN PROTEIN, HUMAN; VERSICAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE PAIRING; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; COL2A1 GENE; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INTRON; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; VENOUS BLOOD; VITREORETINOPATHY; WAGNER DISEASE; EYE DISEASE; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; RETINA DEGENERATION; SYNDROME; VITREOUS BODY;

ADOLESCENT; ADULT; BASE PAIRING; CHILD; COLLAGEN TYPE II; DNA; DNA MUTATIONAL ANALYSIS; EYE DISEASES; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; SYNDROME; TOMOGRAPHY, OPTICAL COHERENCE; VERSICANS; VITREOUS BODY;

EID: 70449719057     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2009.273     Document Type: Article

References (16)

1. Wagner H. Ein bisher unbekanntes des auges (degeneration hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich. Klin Monatsbl Augenheilkd. 1938;100:840-857.
2. Graemiger RA, Niemeyer G, Schneeberger SA, Messmer EP. Wagner vitreoretinal degeneration - follow-up of the original pedigree. Ophthalmology. 1995;102(12):1830-1839. (Pubitemid 26004437)
3. Hinton DR. Basic Clinical Science and Inherited Retinal Diseases. Philadelphia, PA: Elsevier Mosby; 2006:519-538.
4. 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(8):2726-2735. (Pubitemid 43086692)
5. 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.
6. 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(5):655-659. (Pubitemid 46716537)
7. 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(8):3565-3572. (Pubitemid 351639725)
8. Jansen LM. Degeratio hyaloideo-retinalis herditaria. Ophthalmologica. 1962;144:348-363.
9. 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(2):219-226. (Pubitemid 29205497)
10. Brown DM, Kimura AE, Weingeist TA, Stone EM. Erosive vitreoretinopathy: a new clinical entity. Ophthalmology. 1994;101(4):694-704.
11. Edwards AO. Clinical features of the congenital vitreoretinopathies. Eye. 2008;22(10):1233-1242.
12. Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. J Med Genet. 1999;36(5):353-359. (Pubitemid 29221868)
13. McAlinden A, Majava M, Bishop PN, et al. Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat. 2008;29(1):83-90.
14. Richards AJ, Martin S, Yates JR, et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol. 2000;84(4):364-371. (Pubitemid 30255484)
15. Beck RW, Moke PS, Turpin AH, et al. A computerized method of visual acuity testing: adaptation of the early treatment of diabetic retinopathy study testing protocol. Am J Ophthalmol. 2003;135(2):194-205. (Pubitemid 36151797)
16. Ferris FL III, Kassoff A, Bresnick GH, Bailey I. New visual acuity charts for clinical research. Am J Ophthalmol. 1982;94(1):91-96. (Pubitemid 12080556)