title: Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
abstract: The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.
authors.affiliation: Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy. mzollino@rm.unicatt.it
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Daniela
authors.initials: D
authors.lastname: Orteschi
authors.forename: Marina
authors.initials: M
authors.lastname: Murdolo
authors.forename: Serena
authors.initials: S
authors.lastname: Lattante
authors.forename: Domenica
authors.initials: D
authors.lastname: Battaglia
authors.forename: Chiara
authors.initials: C
authors.lastname: Stefanini
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Pietro
authors.initials: P
authors.lastname: Chiurazzi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Marangi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D019066:Facies; D005260:Female; D057895:Haploinsufficiency; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D058496:Smith-Magenis Syndrome; D013577:Syndrome
chemical_list: C574033:NSL1 protein, human; D009687:Nuclear Proteins