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Letters |

De Novo Splice Mutation in the Versican Gene in a Family With Wagner Syndrome

Pierre-Raphaël Rothschild, MD; Isabelle Audo, MD, PhD; Brigitte Nedelec; Tiffany Ghiotti; Antoine P. Brézin, MD, PhD; Claire Monin, MD; Sophie Valleix, MD, PhD
JAMA Ophthalmol. 2013;131(6):805-807. doi:10.1001/jamaophthalmol.2013.681.
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Wagner syndrome (WS; OMIM143200) is a rare inherited vitreoretinopathy caused by mutations in the canonical consensus sites of exon 7 or 8 of the versican gene (VCAN), leading to an aberrant imbalance of its 4 encoded isoforms.13 Although this ocular disorder is clinically very heterogeneous, it is characterized by an optically empty vitreous with no systemic features.1 Only a limited number of families with WS have had the WS confirmed at the molecular level, but all WS-associated VCAN mutations have been shown, until now, to be transmitted through several generations as an autosomal dominant trait with complete penetrance.4

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Graphic Jump Location

Figure 1. Fundus photograph of the proband's left eye showing the optically empty vitreous with the characteristic circumferential avascular preretinal membrane (arrows).

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Figure 2. Pedigree of the family with Wagner syndrome, with corresponding sequence chromatograms of the VCAN gene and haplotype analysis. The markers used in the haplotype analysis were D5S626, D5S641, D5S107, and D5S2103. A heterozygous G to A transition (asterisks) at the canonical donor splice site of intron 8 was identified from the DNA of the proband (arrow) and his daughter. Solid symbols indicate the presence of the VCAN mutation; open symbols, no VCAN mutation; squares, males; and circles, females.




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