Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

  title={Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.},
  author={Zafar Iqbal and Geert Vandeweyer and Monique van der Voet and A M Waryah and Muhammad Yasir Zahoor and Judith A Besseling and Laura Tomas Roca and Anneke T. Vulto-van Silfhout and Bonnie Nijhof and Jamie M Kramer and Nathalie van der Aa and Muhammad Zaka Ansar and Hilde Peeters and C Helsmoortel and Christian Gilissen and Lisenka E L M Vissers and Joris A. Veltman and Arjan de Brouwer and R Frank Kooy and S. Amer Riazuddin and Annette Schenck and Hans van Bokhoven and Liesbeth Rooms},
  journal={Human molecular genetics},
  volume={22 10},
AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It has previously been implicated in bipolar disorder and schizophrenia by association studies. Most recently, de novo missense mutations in this gene were identified in autistic patients. However, the causative nature of these mutations remained controversial. Here, we report inactivating mutations in the Ankyrin 3 (ANK3) gene in patients with severe cognitive deficits. In a patient with a borderline… CONTINUE READING
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