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.
Keywords:
DDX3X; Toriello-Carey syndrome; exome sequencing; intellectual disability.
© 2017 Wiley Periodicals, Inc.
MeSH terms
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Agenesis of Corpus Callosum / diagnosis
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Agenesis of Corpus Callosum / genetics*
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Agenesis of Corpus Callosum / physiopathology
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Child
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Child, Preschool
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Craniofacial Abnormalities / diagnosis
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Craniofacial Abnormalities / genetics*
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Craniofacial Abnormalities / physiopathology
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DEAD-box RNA Helicases / genetics*
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Exome / genetics
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Female
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Genes, X-Linked
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Heart Defects, Congenital / diagnosis
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Heart Defects, Congenital / genetics*
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Heart Defects, Congenital / physiopathology
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Heterozygote
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Humans
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Intellectual Disability / physiopathology
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Limb Deformities, Congenital / diagnosis
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Limb Deformities, Congenital / genetics*
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Limb Deformities, Congenital / physiopathology
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Mutation
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Phenotype
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Pierre Robin Syndrome / diagnosis
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Pierre Robin Syndrome / genetics*
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Pierre Robin Syndrome / physiopathology
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Urogenital Abnormalities / diagnosis
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Urogenital Abnormalities / genetics*
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Urogenital Abnormalities / physiopathology
Substances
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DDX3X protein, human
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DEAD-box RNA Helicases
Supplementary concepts
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Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence