title: A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI.
abstract: We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750 Kb, where two genes (MBNL1 and TMEM14E) are harbored. The potential role of MBNL1 in causing the WS phenotype is discussed. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Unita' di Genetica Medica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.
authors.forename: Veronica
authors.initials: V
authors.lastname: Bertini
authors.affiliation: Sezione di Neurologia Pediatrica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.|Department of Pediatric Neurology, Oxford Children's Hospital, Oxford, UK.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Orsini
authors.affiliation: Sezione di Neurologia Pediatrica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Mazza
authors.affiliation: Department of Pediatric Neurology, Oxford Children's Hospital, Oxford, UK.
authors.forename: Vineela
authors.initials: V
authors.lastname: Mandava
authors.affiliation: Sezione di Neurologia Pediatrica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Saggese
authors.affiliation: Unita' di Genetica Medica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Azzara'
authors.affiliation: Sezione di Neurologia Pediatrica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.
authors.forename: Alice
authors.initials: A
authors.lastname: Bonuccelli
authors.affiliation: Unita' di Genetica Medica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Valetto
mesh_terms: D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics; D013577:Syndrome
chemical_list: C493663:MBNL1 protein, human; D016601:RNA-Binding Proteins
keywords: 3q24q25.2 deletion; CGH array; Dandy Walker syndrome; MBNL1; Wisconsin syndrome; ZIC1; ZIC4