Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

We report a new genetic disorder in 17 patients characterized by developmental delay especially in their speech, a variable degree of intellectual disability, decreased muscle tone, as well as neurobehavioral difficulties including autism and Attention Deficit and Hyperactivity Disorder. All patients have genetic variants in a gene called TNRC6B, which is important for the regulation of protein translation. Although some facial differences were observed, no recurrent pattern was found. A few patients exhibit some congenital anomalies but did not share a common pattern of malformations.  We observed joint hypermobility and additional features seen in connective tissue disorders in about half of the patients. We do not fully understand how the genetic variants in TNRC6B can lead to the clinical abnormalities in this condition. (By Dr. Marwan Shinawi, )

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