title: Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.
abstract: Coffin-Lowry syndrome (CLS) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with cognitive impairment and skeletal malformations. We conducted the first morphometric study of CLS brain morphology by comparing brain volumes from two CLS families with healthy controls. Individuals with CLS consistently showed markedly reduced total brain volume. Cerebellum and hippocampus volumes were particularly impacted by CLS and may be associated with specific interfamilial RSK2 mutations. We provide preliminary evidence that the magnitude of hippocampus volume deviation from that of controls may predict general cognitive outcome in CLS.
authors.affiliation: Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, MC5795, Stanford, CA 94305-5795, USA. skesler@stanford.edu
authors.forename: Shelli R
authors.initials: SR
authors.lastname: Kesler
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Simensen
authors.forename: Kytja
authors.initials: K
authors.lastname: Voeller
authors.forename: Fatima
authors.initials: F
authors.lastname: Abidi
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Allan L
authors.initials: AL
authors.lastname: Reiss
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D038921:Coffin-Lowry Syndrome / Q000235:genetics* / Q000473:pathology*; D017124:Conserved Sequence; D005260:Female; D006580:Genetic Carrier Screening; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D051640:Small-Conductance Calcium-Activated Potassium Channels / Q000235:genetics*
chemical_list: C496899:Kcnn2 protein, rat; D051640:Small-Conductance Calcium-Activated Potassium Channels