title: Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.
abstract: We describe two unrelated patients with terminal deletions in the long arm of chromosome 13 showing brain malformation consisting of holoprosencephaly and cerebellar vermis hypoplasia. Array comparative genomic hybridization analysis revealed a pure terminal deletion of 13q31.3q34 in one patient and a mosaic ring chromosome with 13q32.2q34 deletion in the other. Mutations in ZIC2, located within region 13q32, cause holoprosencephaly, whereas the 13q32.2q32.3 region is associated with cerebellar vermis hypoplasia (Dandy-Walker syndrome). The rare concurrence of these major brain malformations in our patients provides further evidence that 13q32.2q32.3 deletion, harboring ZIC2 and ZIC5, leads to cerebellar dysgenesis.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan. Electronic address: mimaki-tky@umin.ac.jp.
authors.forename: Masakazu
authors.initials: M
authors.lastname: Mimaki
authors.affiliation: Department of Neurology, Gunma Children's Medical Center, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.affiliation: Department of Neurology, Gunma Children's Medical Center, Japan.
authors.forename: Mio
authors.initials: M
authors.lastname: Watanabe
authors.affiliation: Department of Ophthalmology, Gunma Children's Medical Center, Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Hirakata
authors.affiliation: Clinical Genetics Center, Dokkyo Medical University Koshigaya Hospital, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Ishiguro
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Oka
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan; Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
mesh_terms: D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D004268:DNA-Binding Proteins; D003616:Dandy-Walker Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D016142:Holoprosencephaly / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; C491812:ZIC2 protein, human; C485965:ZIC5 protein, human
keywords: Cerebellar vermis hypoplasia; Chromosome 13; Distal 13q deletion