Article
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
Human mutation - 1 Nov 2008
Beysen Diane, De Jaegere Sarah, Amor David, Bouchard Philippe, Christin-Maitre Sophie, Fellous Marc, Touraine Philippe, Grix Arthur W, Hennekam Raoul, Meire Françoise, Oyen Nina, Wilson Louise C, Barel Dalit, Clayton-Smith Jill, de Ravel Thomy, Decock Christian, Delbeke Patricia, Ensenauer Regina, Ebinger Friedrich, Gillessen-Kaesbach Gabriele, Hendriks Yvonne, Kimonis Virginia, Laframboise Rachel, Laissue Paul, Leppig Kathleen, Leroy Bart P, Miller David T, Mowat David, Neumann Luitgard, Plomp Astrid, Van Regemorter Nicole, Wieczorek Dagmar, Veitia Reiner A, De Paepe Anne, De Baere Elfride
Abstract excerpt
Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new intragenic FOXL2 mutations, 34 of which are novel. Specifically, we found 10 nonsense mutations (11%), 13 missense mutations (14%), 40 deletions or insertions leading to a frameshift (43%), and 29 in-frame...
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