DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome

• Verfasst von: Dikow, Nicola [VerfasserIn]
• Verfasst von: Granzow, Martin [VerfasserIn]
• Verfasst von: Karch, Stephanie [VerfasserIn]
• Verfasst von: Hinderhofer, Katrin [VerfasserIn]
• Verfasst von: Paramasivam, Nagarajan [VerfasserIn]
• Verfasst von: Kaufmann, Lilian [VerfasserIn]
• Verfasst von: Fischer, Christine [VerfasserIn]
• Verfasst von: Evers, Christina [VerfasserIn]
• Verfasst von: Eils, Roland [VerfasserIn]
• Verfasst von: Bartram, Claus R. [VerfasserIn]
• Verfasst von: Moog, Ute [VerfasserIn]
• Titel: DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome
• Verf.angabe: Nicola Dikow, Martin Granzow, Luitgard M. Graul‐Neumann, Stephanie Karch, Katrin Hinderhofer, Nagarajan Paramasivam, Laura-Jane Behl, Lilian Kaufmann, Christine Fischer, Christina Evers, Matthias Schlesner, Roland Eils, Guntram Borck, Christiane Zweier, Claus R. Bartram, John C. Carey, Ute Moog
• E-Jahr: 2017
• Jahr: 29 March 2017
• Umfang: 5 S.
• Fussnoten: Gesehen am 19.10.2018
• Titel Quelle: Enthalten in: American journal of medical genetics
• Ort Quelle: New York, NY : Wiley-Liss, 2003
• Jahr Quelle: 2017
• Band/Heft Quelle: 173(2017), 5, Seite 1369-1373
• ISSN Quelle: 1552-4833
• DOI: doi:10.1002/ajmg.a.38164
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: DDX3X
• Sach-SW: exome sequencing
• Sach-SW: intellectual disability
• Sach-SW: Toriello-Carey syndrome
• K10plus-PPN: 158213104X

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.