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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy
Author(s) -
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.
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9
Subject(s) - transversion , exon , biology , macular dystrophy , genetics , gene , hum , transition (genetics) , mutation , microbiology and biotechnology , art , performance art , art history
Abstract 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 also reported: 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C. Hum Mutat 17:235, 2001. © 2001 Wiley‐Liss, Inc.