Journal article

Identification of 34 Novel and 56 Known FOXL2 Mutations in Patients With Blepharophimosis Syndrome

Diane Beysen, Sarah De Jaegere, David Amor, Philippe Bouchard, Sophie Christin-Maitre, Marc Fellous, Philippe Touraine, Arthur W Grix, Raoul Hennekam, Francoise 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 Show all

Human Mutation | WILEY | Published : 2008


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 ..

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Awarded by Bijzonder Onderzoeksfonds from Ghent University

Awarded by Research Foundation - Flanders (FWO-Vlaanderen)

Funding Acknowledgements

This study was supported by grant BOF2002/DRMAN/047 from the Bijzonder Onderzoeksfonds from Ghent University (to D.B.) and by grant from the Research Foundation - Flanders (FWO-Vlaanderen) (to E.D.B.). We are most grateful to the families who participated in this study and to the clinicians and researchers who made this work possible.