title: Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
abstract: NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35 microduplication encompassing NSD1 gene has been reported so far in 27 cases presenting with delayed bone age, microcephaly, failure to thrive and seizures in some cases, further supporting a gene dosage effect of NSD1 on growth regulation and neurological functions. Here we depict the clinical presentation of three new cases with 5q35 microduplication outlining a novel syndrome characterized by microcephaly, short stature, developmental delay and in some cases delayed bone maturation, without any typical facial or osseous anomalies.
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.forename: Franco
authors.initials: F
authors.lastname: Stanzial
authors.forename: Elena
authors.initials: E
authors.lastname: Rossi
authors.forename: Francesco
authors.initials: F
authors.lastname: Benedicenti
authors.forename: Francesca
authors.initials: F
authors.lastname: Inzana
authors.forename: Eleonora
authors.initials: E
authors.lastname: Di Gregorio
authors.forename: Alfredo
authors.initials: A
authors.lastname: Brusco
authors.forename: Jesper
authors.initials: J
authors.lastname: Graakjaer
authors.forename: Christina
authors.initials: C
authors.lastname: Fagerberg
authors.forename: Elga
authors.initials: E
authors.lastname: Belligni
authors.forename: Margherita
authors.initials: M
authors.lastname: Silengo
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002895:Chromosomes, Human, Pair 5; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D056916:Segmental Duplications, Genomic; D058495:Sotos Syndrome / Q000175:diagnosis* / Q000235:genetics*
keywords: NSD1; Sotos syndrome; array-CGH