title: De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
abstract: We report a case carrying a de novo interstitial deletion of chromosome 3q22-q25. The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. Contiguous heterozygous deletion of FOXL2, ATR, ZIC1, and ZIC4 was postulated as the causative mechanism of the clinical phenotype. The association of blepharophimosis, ptosis, and epicanthus inversus syndrome with developmental delay or mental retardation may be an indication for the use of brain imaging and chromosomal analysis capable of detecting chromosomal rearrangements encompassing several candidate genes.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.forename: Woong Yang
authors.initials: WY
authors.lastname: Park
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.forename: Yong Seung
authors.initials: YS
authors.lastname: Hwang
authors.forename: Jong Hee
authors.initials: JH
authors.lastname: Chae
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins; D016569:Blepharophimosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001763:Blepharoptosis; D018797:Cell Cycle Proteins / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003616:Dandy-Walker Syndrome / Q000150:complications / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; C492123:ZIC1 protein, human; C492799:ZIC4 protein, human; C576597:ATR protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases