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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

Human mutation - 1 Mar 2001

Marchant D, Gogat K, Boutboul S, Péquignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache J C, Puech B, Puech V, Dumur V, Mouillon M, Munier F L, Schorderet D F, Marsac C, Dufier J L, Abitbol M

Abstract excerpt

ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-allelic transition in exons 2, 4, 6, 8 and transversion in exons 3 and 6. Five novel "silent" polymorphisms are...

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Identifiers

PMID: 11241846
DOI: 10.1002/humu.9

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Source receipt: pubmed, retrieved 7 Sept 2026.

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