DDX3X – Toriello-Carey syndrome

De novo heterozygous variants in DDX3X have been identified in two unrelated female patients presenting with clinical features overlapping Toriello-Carey syndrome (T-CS), including intellectual disability and dysmorphic manifestations ([PMID:28371085]). Patient 1 carried the recurrent variant c.1703C>T (p.Pro568Leu), and patient 2 harbored c.1600C>G (p.Arg534Gly), both confirmed de novo in trio analysis.

The mode of inheritance is X-linked dominant with de novo heterozygous presentation in females and no affected relatives reported. Genetic evidence is currently limited, based on two probands with de novo DDX3X variants in T-CS ([PMID:28371085]). Functional studies specific to T-CS pathology are lacking. Additional cases and mechanistic data are needed to advance the gene–disease association. Key take-home: De novo DDX3X variants should be considered in females with unexplained intellectual disability and Toriello-Carey syndrome-like features.

References

• American journal of medical genetics. Part A • 2017 • DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. [PMID:28371085]

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