Title
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Bognor Regis ,
Subject
Human medicine
Source (journal)
American journal of medical genetics: part C: seminars in medical genetics. - Bognor Regis
Volume/pages
166(2014) :3 , p. 315-326
ISSN
1552-4868
ISI
000342343200008
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
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. (c) 2014 Wiley Periodicals, Inc.
Full text (open access)
https://repository.uantwerpen.be/docman/irua/252906/8696.pdf
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