title: Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
abstract: Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.
authors.forename: Katie
authors.initials: K
authors.lastname: Snape
authors.forename: Sandra
authors.initials: S
authors.lastname: Hanks
authors.forename: Elise
authors.initials: E
authors.lastname: Ruark
authors.forename: Patricio
authors.initials: P
authors.lastname: Barros-Núñez
authors.forename: Anna
authors.initials: A
authors.lastname: Elliott
authors.forename: Anne
authors.initials: A
authors.lastname: Murray
authors.forename: Andrew H
authors.initials: AH
authors.lastname: Lane
authors.forename: Nora
authors.initials: N
authors.lastname: Shannon
authors.forename: Patrick
authors.initials: P
authors.lastname: Callier
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: David R
authors.initials: DR
authors.lastname: Fitzpatrick
authors.forename: David
authors.initials: D
authors.lastname: Gisselsson
authors.forename: Sebastien
authors.initials: S
authors.lastname: Jacquemont
authors.forename: Keiko
authors.initials: K
authors.lastname: Asakura-Hay
authors.forename: Mark A
authors.initials: MA
authors.lastname: Micale
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
authors.forename: Peter D
authors.initials: PD
authors.lastname: Turnpenny
authors.forename: Michael
authors.initials: M
authors.lastname: Wright
authors.forename: Jenny
authors.initials: J
authors.lastname: Douglas
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
mesh_terms: D000782:Aneuploidy; D025063:Chromosome Disorders / Q000235:genetics; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: C474610:CEP57 protein, human; D008869:Microtubule-Associated Proteins; D009687:Nuclear Proteins