title: Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family.
abstract: Mutations in FOXL2 gene are responsible for blepharophimosis ptosis epicanthus inversus and telecanthus syndrome (BPES). The BPES syndrome is a rare autosomal dominant genetic disease characterized by eyelid malformations associated with premature ovarian failure (BPES type I) or not (BPES type II). The human FOXL2 protein (376 aa) contains a 100 amino-acid DNA-binding forkhead domain (residues 52-152) and a polyalanine tract (residues 221-234). In the present study, we report the molecular investigation of four affected members with BPES syndrome in a Tunisian consanguineous family. To identify the causative mutation, we performed a direct sequencing of the FOXL2 gene. The sequence analysis of the coding exon revealed a novel frameshift mutation g.1113 dup C, c.876 dup C, p.P292 Fs. The mutation is located downstream of the polyalanine tract and causes the protein extension to 532 aa. This study reports for the first time a novel frameshift mutation in two-generation consanguineous Tunisian family with BPES. Our results expand the spectrum of FOXL2 mutations.
authors.forename: Ibtissem
authors.initials: I
authors.lastname: Chouchene
authors.forename: Kaouthar
authors.initials: K
authors.lastname: Derouiche
authors.forename: Afif
authors.initials: A
authors.lastname: Chaabouni
authors.forename: Lamia
authors.initials: L
authors.lastname: Cherif
authors.forename: Ahlem
authors.initials: A
authors.lastname: Amouri
authors.forename: Leila
authors.initials: L
authors.lastname: Largueche
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Leila
authors.initials: L
authors.lastname: El Matri
mesh_terms: D000328:Adult; D001483:Base Sequence; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D016368:Frameshift Mutation; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014416:Tunisia
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors