title: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
abstract: CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, 20246 Hamburg, Germany.
authors.forename: Juliane
authors.initials: J
authors.lastname: Najm
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Isabella
authors.initials: I
authors.lastname: Wimplinger
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Golden
authors.forename: Victor V
authors.initials: VV
authors.lastname: Chizhikov
authors.forename: Jyotsna
authors.initials: J
authors.lastname: Sudi
authors.forename: Susan L
authors.initials: SL
authors.lastname: Christian
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Alma
authors.initials: A
authors.lastname: Kuechler
authors.forename: Carola A
authors.initials: CA
authors.lastname: Haas
authors.forename: Armin
authors.initials: A
authors.lastname: Flubacher
authors.forename: Lawrence R
authors.initials: LR
authors.lastname: Charnas
authors.forename: Gökhan
authors.initials: G
authors.lastname: Uyanik
authors.forename: Ulrich
authors.initials: U
authors.lastname: Frank
authors.forename: Eva
authors.initials: E
authors.lastname: Klopocki
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: Kerstin
authors.initials: K
authors.lastname: Kutsche
mesh_terms: D001933:Brain Stem / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D051528:Guanylate Kinases / Q000235:genetics*; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation; D000091042:Reelin Protein; D013577:Syndrome
chemical_list: D000091042:Reelin Protein; C106868:CASK kinases; D051528:Guanylate Kinases; C000717127:RELN protein, human