| Literature DB >> 18642388 |
Diane Beysen1, Sarah De Jaegere, David Amor, Philippe Bouchard, Sophie Christin-Maitre, Marc Fellous, Philippe Touraine, Arthur W Grix, Raoul Hennekam, Françoise Meire, Nina Oyen, Louise C Wilson, Dalit Barel, Jill Clayton-Smith, Thomy de Ravel, Christian Decock, Patricia Delbeke, Regina Ensenauer, Friedrich Ebinger, Gabriele Gillessen-Kaesbach, Yvonne Hendriks, Virginia Kimonis, Rachel Laframboise, Paul Laissue, Kathleen Leppig, Bart P Leroy, David T Miller, David Mowat, Luitgard Neumann, Astrid Plomp, Nicole Van Regemorter, Dagmar Wieczorek, Reiner A Veitia, Anne De Paepe, Elfride De Baere.
Abstract
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 changes (32%), of which 28 (30%) lead to a polyalanine expansion. This study confirms the existence of two previously described mutational hotspots. Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further clinical observations. (c) 2008 Wiley-Liss, Inc.Entities:
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Year: 2008 PMID： 18642388 DOI： 10.1002/humu.20819
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878