title: CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
abstract: Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by constitutional aneuploidies. Mutations in BUB1B and CEP57 genes, which are involved in mitotic spindle and microtubule stabilization, respectively, are responsible for a subset of patients with MVA. To date, CEP57 mutations have been reported only in four probands. We report on a girl with this disorder due to c.915-925dup11 mutation in CEP57, which predicts p.Leu309ProfsX9 and review the literature in order to facilitate genotype-phenotype correlation. Rhizomelic shortening of the upper limbs, skull anomalies with conserved head circumference, and absence of tumor development could be features suggesting a need for molecular screening of the CEP57 gene in patients with this disorder.
authors.affiliation: Département de Génétique Médicale, Centre Hospitalier Universitaire, Montpellier, France.
authors.forename: Lucile
authors.initials: L
authors.lastname: Pinson
authors.forename: Linda
authors.initials: L
authors.lastname: Mannini
authors.forename: Marjolaine
authors.initials: M
authors.lastname: Willems
authors.forename: Francesco
authors.initials: F
authors.lastname: Cucco
authors.forename: Nicolas
authors.initials: N
authors.lastname: Sirvent
authors.forename: Thierry
authors.initials: T
authors.lastname: Frebourg
authors.forename: Valentina
authors.initials: V
authors.lastname: Quarantotti
authors.forename: Corinne
authors.initials: C
authors.lastname: Collet
authors.forename: Anouck
authors.initials: A
authors.lastname: Schneider
authors.forename: Pierre
authors.initials: P
authors.lastname: Sarda
authors.forename: David
authors.initials: D
authors.lastname: Geneviève
authors.forename: Jacques
authors.initials: J
authors.lastname: Puechberty
authors.forename: Geneviève
authors.initials: G
authors.lastname: Lefort
authors.forename: Antonio
authors.initials: A
authors.lastname: Musio
mesh_terms: D000782:Aneuploidy; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: C474610:CEP57 protein, human; D008869:Microtubule-Associated Proteins; D009687:Nuclear Proteins
keywords: BUB1B; CEP57; mosaic variegated aneuploidy