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Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
Author(s) -
Beysen Diane,
De Jaegere Sarah,
Amor David,
Bouchard Philippe,
ChristinMaitre Sophie,
Fellous Marc,
Touraine Philippe,
Grix Arthur W.,
Hennekam Raoul,
Meire Françoise,
Oyen Nina,
Wilson Louise C.,
Barel Dalit,
ClaytonSmith Jill,
de Ravel Thomy,
Decock Christian,
Delbeke Patricia,
Ensenauer Regina,
Ebinger Friedrich,
GillessenKaesbach 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
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20819
Subject(s) - blepharophimosis , biology , identification (biology) , genetics , computational biology , ptosis , botany , pharmacology
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. © 2008 Wiley‐Liss, Inc.