title: Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
abstract: Deletions of the distal 3q22.3 region encompassing the gene forkhead transcription factor FOXL2 (FOXL2) usually result in intellectual disability (ID) and the highly recognizable blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). We encountered three patients with molecularly defined interstitial deletions distal to the FOXL2 gene. They present with remarkably similar manifestations comprising variable ID, a coarse facial appearance, including prominent nose and eyebrows, hypogonadism and skin pigmentation abnormalities, and they share an approximately 8.8 Mb overlapping 3q24q25 deletion. Interestingly, one of the present patients was described previously in a clinical report with emphasis on her clinical similarity to the Wisconsin syndrome, suggesting that Wisconsin syndrome might be caused by a (micro) deletion within the 3q24q25 region.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. m.willemsen@antrg.umcn.nl
authors.forename: Marjolein H
authors.initials: MH
authors.lastname: Willemsen
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Catherine
authors.initials: C
authors.lastname: Mercer
authors.forename: Helen
authors.initials: H
authors.lastname: Eisenhauer
authors.forename: Joanne
authors.initials: J
authors.lastname: Morris
authors.forename: Morag N
authors.initials: MN
authors.lastname: Collinson
authors.forename: John C K
authors.initials: JC
authors.lastname: Barber
authors.forename: Stephen T S
authors.initials: ST
authors.lastname: Lam
authors.forename: Ivan F M
authors.initials: IF
authors.lastname: Lo
authors.forename: Hanneke
authors.initials: H
authors.lastname: Rensen
authors.forename: Annemarie
authors.initials: A
authors.lastname: Ferwerda
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: Tjitske
authors.initials: T
authors.lastname: Kleefstra
mesh_terms: D000293:Adolescent; D016569:Blepharophimosis / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013577:Syndrome
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors