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, 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-KaesbachYvonne 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*

*Corresponding author for this work
39 Citations (Scopus)


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.

Original languageEnglish
JournalHuman Mutation
Issue number11
Publication statusPublished - 01.11.2008

Research Areas and Centers

  • Research Area: Medical Genetics


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