A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, Céline; Silfhout, Anneke T. Vulto-van; Coe, Bradley P.; Vandeweyer, Geert; Rooms, Liesbeth; Ende, Jenneke van den; Schuurs-Hoeijmakers, Janneke; Marcelis, Carlo; Willemsen, Marjolein H.; Vissers, Lisenka E.L.M.; Yntema, Helger G.; Bakshi, Madhura; Wilson, Meredith; Witherspoon, Kali; Malmgren, Helena; Annerén, Göran; Fichera, Marco; Bosco, Paolo; Romano, Corrado; Vries, Bert B.A. de; Kleefstra, Tjitske; Kooy, R. Frank; Eichler, Evan E.; Aa, Nathalie Van der

doi:10.1038/ng.2899

Cited by 304 publications

(343 citation statements)

References 55 publications

(69 reference statements)

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“…In this study of 2446 probands, an additional p.Tyr719* de novo ADNP mutation was identified. By combining the data from WES and targeted resequencing studies initiated in multiple centers, Helsmoortel et al (2014) identified a total of 10 patients with mutations in ADNP, including the two patients identified in both earlier studies. As all patients suffered from autism and shared characteristic facial features, it could be concluded that mutations in ADNP cause a syndromic form of autism.…”

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confidence: 99%

The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation

et al. 2015

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confidence: 99%

The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation

et al. 2015

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“…Importantly, SWI/SNF complexes have been implicated in neuronal development and cognitive function (reviewed in ref. 16), and recently a mutation in an SWI/SNF component has been associated with a syndrome of autism and cognitive disability in humans (17), demonstrating the importance of SWI/SNF gene regulation in complex cognitive functions. Therefore, we examined the role of SWI/SNF in ethanol-response behaviors.…”

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confidence: 99%

SWI/SNF chromatin remodeling regulates alcohol response behaviors in Caenorhabditis elegans and is associated with alcohol dependence in humans

Mathies¹,

Blackwell²,

Austin³

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

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Alcohol abuse is a widespread and serious problem. Understanding the factors that influence the likelihood of abuse is important for the development of effective therapies. There are both genetic and environmental influences on the development of abuse, but it has been difficult to identify specific liability factors, in part because of both the complex genetic architecture of liability and the influences of environmental stimuli on the expression of that genetic liability. Epigenetic modification of gene expression can underlie both genetic and environmentally sensitive variation in expression, and epigenetic regulation has been implicated in the progression to addiction. Here, we identify a role for the switching defective/sucrose nonfermenting (SWI/SNF) chromatin-remodeling complex in regulating the behavioral response to alcohol in the nematode Caenorhabditis elegans. We found that SWI/SNF components are required in adults for the normal behavioral response to ethanol and that different SWI/SNF complexes regulate different aspects of the acute response to ethanol. We showed that the SWI/SNF subunits SWSN-9 and SWSN-7 are required in neurons and muscle for the development of acute functional tolerance to ethanol. Examination of the members of the SWI/SNF complex for association with a diagnosis of alcohol dependence in a human population identified allelic variation in a member of the SWI/SNF complex, suggesting that variation in the regulation of SWI/SNF targets may influence the propensity to develop abuse disorders. Together, these data strongly implicate the chromatin remodeling associated with SWI/SNF complex members in the behavioral responses to alcohol across phyla.SWI/SNF | alcohol | C. elegans | chromatin remodeling | GWAS

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“…In this respect, de novo, mostly truncating mutations in ADNP lead to cognitive impairments and autism in children [23][24][25][26]. Importantly, we have recently shown that serum ADNP content [27] is correlated with premorbid intelligence.…”

Section: Blood Biomarkersmentioning

confidence: 96%

Specific protein biomarker patterns for Alzheimer’s disease: improved diagnostics in progress

Gozes

2017

EPMA Journal

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This short review looks at Alzheimer's disease (AD) diagnosis through my own point of view, going from imaging through cerebrospinal fluid to blood proteins. Over the last couple of years, we have published two papers targeted at Alzheimer's diagnosis. In one paper, we took an approach of selecting a specific target, namely, activitydependent neuroprotective protein (ADNP), and our results tightened the association of ADNP blood expression with intelligence. In another paper, we took an unbiased approach of analysis of all genes expressed in lymphoblastoid cells lines and discovered changes in expression of the regulator of G-protein signaling 2 (RGS2) as a potential AD predictor. This review will assess our data in comparison to selected independent studies focusing on blood protein biomarkers as well as assessing saliva and urine samples with potential predictive value for AD. Furthermore, the review will provide directions for a combination of innovative markers, stratifying the population toward disease prevention and personalized medicine.

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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Cited by 304 publications

References 55 publications

The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation

The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation

SWI/SNF chromatin remodeling regulates alcohol response behaviors in Caenorhabditis elegans and is associated with alcohol dependence in humans

Specific protein biomarker patterns for Alzheimer’s disease: improved diagnostics in progress

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