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

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,...

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Hauptverfasser: Dikow, Nicola (VerfasserIn) , Granzow, Martin (VerfasserIn) , Karch, Stephanie (VerfasserIn) , Hinderhofer, Katrin (VerfasserIn) , Paramasivam, Nagarajan (VerfasserIn) , Kaufmann, Lilian (VerfasserIn) , Fischer, Christine (VerfasserIn) , Evers, Christina (VerfasserIn) , Eils, Roland (VerfasserIn) , Bartram, Claus R. (VerfasserIn) , Moog, Ute (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 29 March 2017
In: American journal of medical genetics
Year: 2017, Jahrgang: 173, Heft: 5, Pages: 1369-1373
ISSN:1552-4833
DOI:10.1002/ajmg.a.38164
Online-Zugang:Verlag, Volltext: http://dx.doi.org/10.1002/ajmg.a.38164
Verlag, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38164
Volltext
Verfasserangaben: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
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 19.10.2018
Beschreibung:Online Resource
ISSN:1552-4833
DOI:10.1002/ajmg.a.38164

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