title: DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
abstract: Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X variants in two unrelated girls with clinical features of Toriello-Carey Syndrome (T-CS). In patient 1, the recurrent variant c.1703C>T; p.(P568L) was identified when reconsidering X-linked de novo heterozygous variants in exome sequencing data. In patient 2, the DDX3X variant c.1600C>G; p.(R534G) was also detected by exome sequencing. Based on these data, de novo heterozygous DDX3X variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T-CS.
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Nicola
authors.identifier: http://orcid.org/0000-0003-4631-9829
authors.initials: N
authors.lastname: Dikow
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Granzow
authors.affiliation: Ambulantes Gesundheitszentrum Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Luitgard M
authors.initials: LM
authors.lastname: Graul-Neumann
authors.affiliation: Center for Child and Adolescent Medicine Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Karch
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Katrin
authors.initials: K
authors.lastname: Hinderhofer
authors.affiliation: Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany.|Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Nagarajan
authors.initials: N
authors.lastname: Paramasivam
authors.affiliation: Genomics and Proteomics Core Facility, High Throughput Sequencing, German Cancer Research Center, Heidelberg, Germany.
authors.forename: Laura-Jane
authors.initials: LJ
authors.lastname: Behl
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Lilian
authors.initials: L
authors.lastname: Kaufmann
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Christine
authors.initials: C
authors.lastname: Fischer
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Christina
authors.identifier: http://orcid.org/0000-0002-5104-9918
authors.initials: C
authors.lastname: Evers
authors.affiliation: Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Schlesner
authors.affiliation: Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.|Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, Heidelberg, Germany.
authors.forename: Roland
authors.initials: R
authors.lastname: Eils
authors.affiliation: Institute of Human Genetics, University of Ulm, Ulm, Germany.
authors.forename: Guntram
authors.initials: G
authors.lastname: Borck
authors.affiliation: Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Zweier
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Claus R
authors.initials: CR
authors.lastname: Bartram
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.affiliation: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
authors.forename: Ute
authors.initials: U
authors.lastname: Moog
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005260:Female; D050172:Genes, X-Linked; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: C119332:DDX3X protein, human; D053487:DEAD-box RNA Helicases
keywords: DDX3X; Toriello-Carey syndrome; exome sequencing; intellectual disability