Reference : FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 del...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/82359
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
English
D'haene, B. [> > > >]
Nevado, J. [> > > >]
Pugeat, M. [> > > >]
Pierquin, Geneviève mailto [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 mailto [Université de Liège - ULg > Département des Arts et Sciences de la communication > Institutions culturelles et information >]
Lapunzina, P. [> > > >]
De Baere, E. [> > > >]
2010
Human Mutation
Wiley Liss
31
5
E1332-47
Yes (verified by ORBi)
International
1059-7794
1098-1004
Hoboken
NJ
[en] 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
[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.
http://hdl.handle.net/2268/82359
10.1002/humu.21233
(c) 2010 Wiley-Liss, Inc.

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