A Novel Pathogenic Variant in CNOT3 Causing Neurodevelopmental Delay and Epilepsy

The CNOT3 gene (OMIM #604910) has been linked to intellectual disability, speech delay, autism and dysmorphic facies. Till now, only 22 cases with CNOT3-related developmental disease have been reported. In this study, we present a pair of identical twins with developmental delays, ankylosing spondylitis and epilepsy due to de novo CNOT3 variants. Our report expands the phenotypic-genotypic spectrum of CNOT3-related disorders and emphasizes the role of CNOT3 as a cause of developmental epileptic encephalopathy.

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