Details

Autor(en) / Beteiligte

• 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

Titel

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

Ist Teil von

• Human mutation, 2008-11, Vol.29 (11), p.E205-E219

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2008

Link zum Volltext

Quelle

Wiley Online Library

Beschreibungen/Notizen

• 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.