title: Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
abstract: We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
authors.forename: David A
authors.initials: DA
authors.lastname: Koolen
authors.forename: Jamie M
authors.initials: JM
authors.lastname: Kramer
authors.forename: Kornelia
authors.initials: K
authors.lastname: Neveling
authors.forename: Willy M
authors.initials: WM
authors.lastname: Nillesen
authors.forename: Heather L
authors.initials: HL
authors.lastname: Moore-Barton
authors.forename: Frances V
authors.initials: FV
authors.lastname: Elmslie
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Anne Chun-Hui
authors.initials: AC
authors.lastname: Tsai
authors.forename: Sau Wai
authors.initials: SW
authors.lastname: Cheung
authors.forename: Christian
authors.initials: C
authors.lastname: Gilissen
authors.forename: Eugene T P
authors.initials: ET
authors.lastname: Verwiel
authors.forename: Sarah
authors.initials: S
authors.lastname: Martens
authors.forename: Ton
authors.initials: T
authors.lastname: Feuth
authors.forename: Ernie M H F
authors.initials: EM
authors.lastname: Bongers
authors.forename: Petra
authors.initials: P
authors.lastname: de Vries
authors.forename: Hans
authors.initials: H
authors.lastname: Scheffer
authors.forename: Lisenka E L M
authors.initials: LE
authors.lastname: Vissers
authors.forename: Arjan P M
authors.initials: AP
authors.lastname: de Brouwer
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
authors.forename: Annette
authors.initials: A
authors.lastname: Schenck
authors.forename: Helger G
authors.initials: HG
authors.lastname: Yntema
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000368:Aged; D000375:Aging; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D019066:Facies; D005260:Female; D057895:Haploinsufficiency; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D058496:Smith-Magenis Syndrome; D013577:Syndrome
chemical_list: C574033:NSL1 protein, human; D009687:Nuclear Proteins