Discovering the ANK2-related autism phenotype.

Claire Guissart, Anne Polge, Nelly Durand, Ania Miret, Serge Lumbroso, Christine Francannet, Kevin Mouzat

Clinical genetics 2023 Sep

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Interestingly, disease-causing mutations in the ANK2 gene have been identified in patients with autism since 2012, though with no full clinical description. In this Research Letter, for the first time, we describe the detailed characteristics of a patient with autism caused by a new mutation in this gene. Our report is a first step to better understanding ANK2-related autism and will contribute to facilitating its further diagnosis. © 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.

Citation

Claire Guissart, Anne Polge, Nelly Durand, Ania Miret, Serge Lumbroso, Christine Francannet, Kevin Mouzat. Discovering the ANK2-related autism phenotype. Clinical genetics. 2023 Sep;104(3):384-386