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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| Main Authors: | , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
29 March 2017
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| In: |
American journal of medical genetics
Year: 2017, Volume: 173, Issue: 5, Pages: 1369-1373 |
| ISSN: | 1552-4833 |
| DOI: | 10.1002/ajmg.a.38164 |
| Online Access: | Verlag, Volltext: http://dx.doi.org/10.1002/ajmg.a.38164 Verlag, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38164 
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| Author Notes: | 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 |
| Summary: | 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. |
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| Item Description: | Gesehen am 19.10.2018 |
| Physical Description: | Online Resource |
| ISSN: | 1552-4833 |
| DOI: | 10.1002/ajmg.a.38164 |