The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

  title={The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.},
  author={Geert Vandeweyer and C Helsmoortel and Anke Van Dijck and Anneke T. Vulto-van Silfhout and Bradley P. Coe and Raphael Bernier and Jennifer Gerdts and Liesbeth Rooms and Jenneke Van den Ende and Madhura Bakshi and Meredith Wilson and Ann Nordgren and Laura G. Hendon and O. A. Abdulrahman and Corrado Romano and Bert B A de Vries and Tjitske Kleefstra and Evan E. Eichler and Nathalie van der Aa and R. Frank Kooy},
  journal={American journal of medical genetics. Part C, Seminars in medical genetics},
  volume={166C 3},
Mutations in ADNP were recently identified as a frequent cause of syndromic autism, characterized by deficits in social communication and interaction and restricted, repetitive behavioral patterns. Based on its functional domains, ADNP is a presumed transcription factor. The gene interacts closely with the SWI/SNF complex by direct and experimentally verified binding of its C-terminus to three of its core components. A detailed and systematic clinical assessment of the symptoms observed in our… CONTINUE READING


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