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Title: Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
Authors: 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 #
Issue Date: Nov-2008
Series Title: Human Mutation vol:29 issue:11 pages:E205-19
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.
URI: 
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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