title: Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation.
abstract: Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by sensorineural deafness, agenesis of the corpus callosum, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement. CMS is caused by mutations in the GPSM2 gene, but until now no more than eight different mutations are on record. We describe two dizygotic twins with a novel homozygous loss-of-function mutation (c.1093C > T; p.Arg365*). While one child developed hydrocephalus-prompting shunt implantation immediately after birth, the other sibling did not. The combination of sensorineural hearing loss and partial agenesis of the corpus callosum is a highly recognizable clinico-radiological entity that should prompt mutational analysis of the GPSM2 gene.
authors.affiliation: Department of Neuropediatrics, Justus-Liebig-University, Giessen, Germany.
authors.forename: Karsten
authors.initials: K
authors.lastname: Koenigstein
authors.affiliation: Department of Neuroradiology, Justus-Liebig-University, Giessen, Germany.
authors.forename: Carolin
authors.initials: C
authors.lastname: Gramsch
authors.affiliation: Department of Neurosurgery, Justus-Liebig-University, Giessen, Germany.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Kolodziej
authors.affiliation: Department of Neuropediatrics, Justus-Liebig-University, Giessen, Germany.
authors.forename: Bernd A
authors.initials: BA
authors.lastname: Neubauer
authors.affiliation: Department of Human Genetics, Justus-Liebig-University, Giessen, Germany.
authors.forename: Axel
authors.initials: A
authors.lastname: Weber
authors.affiliation: Center for Genomics and Transcriptomics (CeGaT), University Tubingen, Germany.
authors.forename: Sarah
authors.initials: S
authors.lastname: Lechner
authors.affiliation: Department of Neuropediatrics, Justus-Liebig-University, Giessen, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hahn
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D016080:Arachnoid Cysts / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology / Q000601:surgery*; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D014429:Twins, Dizygotic / Q000235:genetics*; D017287:Ventriculoperitoneal Shunt
chemical_list: C102754:GPSM2 protein, human; D047908:Intracellular Signaling Peptides and Proteins