A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
paper
Cited
Public
- Authors
- Helsmoortel, CΓ©line; Vulto-van Silfhout, Anneke T; Coe, Bradley P; Vandeweyer, Geert; Rooms, Liesbeth; van den Ende, Jenneke; Schuurs-Hoeijmakers, Janneke H M; Marcelis, Carlo L; Willemsen, Marjolein H; Vissers, Lisenka E L M; Yntema, Helger G; Bakshi, Madhura; Wilson, Meredith; Witherspoon, Kali T; Malmgren, Helena; Nordgren, Ann; AnnerΓ©n, GΓΆran; Fichera, Marco; Bosco, Paolo; Romano, Corrado; de Vries, Bert B A; Kleefstra, Tjitske; Kooy, R Frank; Eichler, Evan E; Van der Aa, Nathalie
- Year
- 2014
- Journal
- Nature genetics
- PMID
- 24531329
- DOI
- 10.1038/ng.2899
- PMCID
- PMC3990853
Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities, a genetic diagnosis can be established in only a minority of patients. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile-X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in next-generation sequencing, for the large majority of cases no molecular diagnosis can be established. Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD-associated genes known to date.
Figure 1
Frontal facial photographs of patient 1 (a),2 (b), 4 (c), 5 (d), 6 (e) and 8 (f) at young age. Note the clinical similarities, including a prominent forehead, a thin upper lip and a broad nasal bridge. Consent for the publication of photographs was obtained for these patients (1, 2, 4, 5, 6 and 8).
Schematic overview of the ADNP gene structure and functional domains. Identified mutations and corresponding patients are indicated by black arrows.
| # | Section | Preview |
|---|---|---|
| 0 | Methods β Patients | Patients were selected for inclusion in this study from different cohorts tested on eitherβ¦ |
| 1 | Methods β Sanger sequencing | Primers were designed using Primer347,48. PCR was performed using GOTaq polymerase (Promega,β¦ |
| 2 | Methods β Whole-exome sequencing (WES) | Patient 1 was detected in a family-based WES study (unpublished data (CH, GV, Filip Van Nieuwerburg,β¦ |
| 3 | Methods β Molecular inversion probes (MIPs) | Patients 7, 8 and 9 were discovered from a MIP based screen of 2743 probands with intellectualβ¦ |
| 4 | Methods β High-resolution melting (HRM) | 192 control chromosomes were screened for the presence of the mutations identified in the 10β¦ |
| 5 | Methods β Real-time quantitative PCR | RNA isolation, cDNA synthesis and quality control were performed as described earlier52. mRNAβ¦ |
| 6 | Methods β Real-time quantitative PCR | folding in primer binding sites. The amplification efficiency of the different primers was assessedβ¦ |
1β7 of 7
| Name | Type |
|---|---|
| ABCF3 local | gene |
| ADNP local | gene |
| ADNP2 local | gene |
| ADNP antioligodeoxynucleotide local | drug |
| ASD | phenotype |
| autism spectrum disorder | phenotype |
| BigDye Terminator V3.1 local | drug |
| brain tissue | anatomy |
| CCNC local | gene |
| cohort of 148 probands with idiopathic ASD local | cohort |
| control individuals | cohort |
| family-based WES study local | cohort |
| family trio based study local | cohort |
| GOTaq polymerase local | drug |
| heterozygous Adnp knockout mice embryos local | phenotype |
| homozygous Adnp knockout mice embryos local | phenotype |
| HPRT1 | gene |
| HT29 cells local | cohort |
| HT29 cells incubated with ADNP antioligodeoxynucleotide local | phenotype |
| intellectual disability | phenotype |
| Patient 1 local | cohort |
| Patient 2 local | cohort |
| Patient 3 local | cohort |
| Patient 4 local | cohort |
| Patient 5 local | cohort |
| patients | cohort |
| PLAGL2 local | gene |
| Simon Simplex Collection local | cohort |
| study cohort | cohort |
| TMPO local | gene |
| TP53 | gene |
| YWHAZ local | gene |
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| Molecular hypotheses to explain the shared pathways and underlying pathobiological causes in catatonia and in catatonic presentations in neuropsychiatric disorders. | Peter-Ross EM | β | 2018 | β |
| Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. | BΓΆgershausen N et al. | β | 2018 | β |
| Mutation in the ADNP gene associated with Noonan syndrome features. | Alkhunaizi E et al. | β | 2018 | β |
| Mutations in ADNP affect expression and subcellular localization of the protein. | Cappuyns E et al. | β | 2018 | β |
| OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. | Uddin M et al. | β | 2018 | β |
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| Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder. | Morimoto Y et al. | β | 2018 | β |
| ADNP/NAP dramatically increase microtubule end-binding protein-Tau interaction: a novel avenue for protection against tauopathy. | Ivashko-Pachima Y et al. | β | 2017 | β |
| ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's Disease. | Sragovich S et al. | β | 2017 | β |
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| Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. | Takenouchi T et al. | β | 2017 | β |
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| Interaction between FMDV L<sup>pro</sup> and transcription factor ADNP is required for optimal viral replication. | Medina GN et al. | β | 2017 | β |
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| Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. | Stessman HA et al. | β | 2017 | β |
| The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings. | Gozes I et al. | β | 2017 | β |
| The Transcriptional Network Structure of a Myeloid Cell: A Computational Approach. | Espinal-EnrΓquez J et al. | β | 2017 | β |
| Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations. | Mathies LD et al. | β | 2017 | β |
| A Consensus Network of Gene Regulatory Factors in the Human Frontal Lobe. | Berto S et al. | β | 2016 | β |
| A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders. | Gonzalez-Mantilla AJ et al. | β | 2016 | β |
| Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. | Krajewska-Walasek M et al. | β | 2016 | β |
| ADNP encoding a transcription factor interacting with BAF complexes exhibits frameshift mutations in gastric and colorectal cancers. | Jo YS et al. | β | 2016 | β |
| Alterations in Activity-Dependent Neuroprotective Protein in Sporadic and Experimental Parkinson's Disease. | Chu Y et al. | β | 2016 | β |
| A Short Review on the Current Understanding of Autism Spectrum Disorders. | Park HR et al. | β | 2016 | β |
| A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. | Lin YC et al. | β | 2016 | β |
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| Autism-Associated Chromatin Regulator Brg1/SmarcA4 Is Required for Synapse Development and Myocyte Enhancer Factor 2-Mediated Synapse Remodeling. | Zhang Z et al. | β | 2016 | β |
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| Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. | Casanova EL et al. | β | 2016 | β |
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| Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways. | Lalli MA et al. | β | 2016 | β |
| Identification of a rare variant in CHD8 that contributes to schizophrenia and autism spectrum disorder susceptibility. | Kimura H et al. | β | 2016 | β |
| Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb. | Tan PP et al. | β | 2016 | β |
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| Sexual divergence in microtubule function: the novel intranasal microtubule targeting SKIP normalizes axonal transport and enhances memory. | Amram N et al. | β | 2016 | β |
| The cytoskeleton as a drug target for neuroprotection: the case of the autism- mutated ADNP. | Gozes I | β | 2016 | β |
| The importance of de novo mutations for pediatric neurological disease--It is not all in utero or birth trauma. | Erickson RP | β | 2016 | β |
| Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder. | Helsmoortel C et al. | β | 2016 | β |
| Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies. | Malishkevich A et al. | β | 2015 | β |
| ADNP/ADNP2 expression in oligodendrocytes: implication for myelin-related neurodevelopment. | Malishkevich A et al. | β | 2015 | β |
| ADNP: A major autism mutated gene is differentially distributed (age and gender) in the songbird brain. | Hacohen Kleiman G et al. | β | 2015 | β |
| ADNP: in search for molecular mechanisms and innovative therapeutic strategies for frontotemporal degeneration. | Gozes I et al. | β | 2015 | β |
| Camk2a-Cre-mediated conditional deletion of chromatin remodeler Brg1 causes perinatal hydrocephalus. | Cao M et al. | β | 2015 | β |
| Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. | Helsmoortel C et al. | β | 2015 | β |
| Genetics and genomics of autism spectrum disorder: embracing complexity. | De Rubeis S et al. | β | 2015 | β |
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| In vivo and in vitro ketamine exposure exhibits a dose-dependent induction of activity-dependent neuroprotective protein in rat neurons. | Brown BP et al. | β | 2015 | β |
| Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study | β | 2015 | β |
| Modular and coordinated expression of immune system regulatory and signaling components in the developing and adult nervous system. | MonzΓ³n-Sandoval J et al. | β | 2015 | β |
| Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology. | Barnard RA et al. | β | 2015 | β |
| Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders. | LΓ³pez AJ et al. | β | 2015 | β |
| SWI/SNF chromatin remodeling regulates alcohol response behaviors in Caenorhabditis elegans and is associated with alcohol dependence in humans. | Mathies LD et al. | β | 2015 | β |
| The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation. | Gozes I et al. | β | 2015 | β |
| The emerging picture of autism spectrum disorder: genetics and pathology. | Chen JA et al. | β | 2015 | β |
| The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders. | Higdon R et al. | β | 2015 | β |
| Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. | Kosho T et al. | β | 2014 | β |
| Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. | Pescosolido MF et al. | β | 2014 | β |
| Numerous BAF complex genes are mutated in Coffin-Siris syndrome. | Miyake N et al. | β | 2014 | β |
| Prioritization of neurodevelopmental disease genes by discovery of new mutations. | Hoischen A et al. | β | 2014 | β |
| Recurrent de novo mutations implicate novel genes underlying simplex autism risk. | O'Roak BJ et al. | β | 2014 | β |
| Study of NAP adsorption and assembly on the surface of HOPG. | Korolkov VV et al. | β | 2014 | β |
| Synaptic, transcriptional and chromatin genes disrupted in autism. | De Rubeis S et al. | β | 2014 | β |
| The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery. | Brick DJ et al. | β | 2014 | β |
| The NAP motif of activity-dependent neuroprotective protein (ADNP) regulates dendritic spines through microtubule end binding proteins. | Oz S et al. | β | 2014 | β |
| The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. | Vandeweyer G et al. | β | 2014 | β |
| VariantDB: a flexible annotation and filtering portal for next generation sequencing data. | Vandeweyer G et al. | β | 2014 | β |