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

Geert Vandeweyer, Céline Helsmoortel, Anke VanDijck, Anneke T. Vulto-Van Silfhout, Bradley P. Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Jenneke Van Den Ende, Madhura Bakshi, Meredith Wilson, Ann Nordgren, Laura G. Hendon, Omar A. Abdulrahman, Corrado Romano, Bert B A De Vries, Tjitske Kleefstra, Evan E. Eichler, Nathalie Van Der Aa, R. Frank Kooy

Research output: Contribution to journalArticlepeer-review


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 patients allows a detailed comparison with the symptoms observed in other SWI/SNF disorders. While the mutational mechanism of the first 10 patients identified suggested a gain of function mechanism, an 11th patient reported here is predicted haploinsufficient. The latter observation may raise hope for therapy, as addition of NAP, a neuroprotective octapeptide named after the first three amino acids of the sequence NAPVSPIQ, has been reported by others to ameliorate some of the cognitive abnormalities observed in a knockout mouse model. It is concluded that detailed clinical and molecular studies on larger cohorts of patients are necessary to establish a better insight in the genotype phenotype correlation and in the mutational mechanism.

Original languageEnglish
Pages (from-to)315-326
Number of pages12
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number3
Publication statusPublished - 2014


  • ADNP
  • Autism
  • BAF complexes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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