Article (Scientific journals)
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
D'haene, B.; Nevado, J.; Pugeat, M. et al.
2010In Human Mutation, 31 (5), p. 1332-47
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Keywords :
Adolescent; Blepharophimosis/genetics; Child, Preschool; DNA Copy Number Variations/genetics; Female; Forkhead Transcription Factors/genetics; Gene Deletion; Genotype; Humans; Infant; Male; Middle Aged; Mutation/genetics; Pedigree; Phenotype; Prognosis
Abstract :
[en] Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with or without ovarian dysfunction caused by FOXL2 mutations. Overall, FOXL2deletions represent 12% of all genetic defects in BPES. Here, we have identified and characterized 16 new and one known FOXL2 deletion combining multiplex ligation-dependent probe amplification (MLPA), custom-made quantitative PCR (qPCR) and/or microarray-based copy number screening. The deletion breakpoints could be localized for 13 out of 17 deletions. The deletion size is highly variable (29.8 kb - 11.5 Mb), indicating absence of a recombination hotspot. Although the heterogeneity of their size and breakpoints is not reflected in the uniform BPES phenotype, there is considerable phenotypic variability regarding associated clinical findings including psychomotor retardation (8/17), microcephaly (6/17), and subtle skeletal features (2/17). In addition, in all females in whom ovarian function could be assessed, FOXL2 deletions proved to be associated with variable degrees of ovarian dysfunction. In conclusion, we present the largest series of BPES patients with FOXL2 deletions and standardized phenotyping reported so far. Our genotype-phenotype data can be useful for providing a prognosis (i.e. occurrence of associated features) in newborns with BPES carrying a FOXL2 deletion.
Disciplines :
Genetics & genetic processes
Author, co-author :
D'haene, B.
Nevado, J.
Pugeat, M.
Pierquin, Geneviève ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Lowry, R. B.
Reardon, W.
Delicado, A.
Garcia-Minaur, S.
Palomares, M.
Courtens, W.
Stefanova, M.
Wallace, S.
Watkins, W.
Shelling, A. N.
Wieczorek, D.
Veitia, R. A.
De Paepe, Alexandra ;  Université de Liège - ULiège > Département des Arts et Sciences de la communication > Institutions culturelles et information
Lapunzina, P.
De Baere, E.
More authors (9 more) Less
Language :
English
Title :
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
Publication date :
2010
Journal title :
Human Mutation
ISSN :
1059-7794
eISSN :
1098-1004
Publisher :
Wiley Liss, Hoboken, United States - New Jersey
Volume :
31
Issue :
5
Pages :
E1332-47
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
(c) 2010 Wiley-Liss, Inc.
Available on ORBi :
since 19 January 2011

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