ArticleNature communications2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Open access · goldAbstract read
In one paragraph
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
6.6field-weighted citation impact, top 3% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.PLoS genetics · 2025Pooled it
- Neonatal inflammation disrupts a temporally restricted postnatal Numb-enriched microglial state in mice.Nature communications · 2026Article
- De novo TANC2 stop-loss variant associated with developmental impairment and drug-resistant epilepsy.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Expanding the electroclinical spectrum of TANC2-related disorders: Lennox-Gastaut syndrome and related developmental epileptic phenotypes.Epilepsia open · 2026Article
- Hippocampal Mitochondrial Dysfunction and Synaptic Disruption Link Organophosphate Exposure to Pre-Diabetes: An LC-MS/MS-Based Proteomics Approach.Biomolecules · 2026Article
- Article
- Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Biomolecules · 2026Article
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Article
- Article
- Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Epigenomic tomography for probing spatially defined chromatin state in the brain.Cell reports methods · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Decreased free D-aspartate levels in the blood serum of patients with schizophrenia.Frontiers in psychiatry · 2024Article
- Co-expression of prepulse inhibition and Schizophrenia genes in the mouse and human brain.Neuroscience applied · 2024Article
- Detection and characterization of copy-number variants from exome sequencing in the DDD study.Genetics in medicine open · 2024Article
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- Efficient strategies based on behavioral and electrophysiological methods for epilepsy-related gene screening in theFrontiers in molecular neuroscience · 2023Article
- Discovery of 42 genome-wide significant loci associated with dyslexia.Nature genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
67 authors at 20 institutions in 10 countries.
Hui GuoDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.ORCID http://orcid.org/0000-0002-1570-2545
Elisa BettellaLaboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy.
Paul C MarcoglieseDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID http://orcid.org/0000-0002-8011-7852
Rongjuan ZhaoCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
Jonathan C AndrewsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Tomasz J NowakowskiUCSF Department of Anatomy, University of California, San Francisco, San Francisco, CA, 94143, USA.ORCID http://orcid.org/0000-0003-2345-4964
Madelyn A GillentineDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
Tianyun WangDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
Huidan WuCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
Sharayu JangamDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Cenying LiuCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
Hailun NiCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
Marjolein H WillemsenDepartment of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Bregje W van BonDepartment of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Tuula RinneDepartment of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Servi J C StevensDepartment of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Helger G YntemaDepartment of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Min LongCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
Wenjing ZhaoCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
Zhengmao HuCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
Cindy ColsonNormandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, 14000, Caen, France.
Nicolas RichardNormandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, 14000, Caen, France.ORCID http://orcid.org/0000-0003-0702-7399
Charles E SchwartzGreenwood Genetic Center, Greenwood, SC, 29646, USA.ORCID http://orcid.org/0000-0002-7770-1943
Corrado RomanoOasi Research Institute-IRCCS, 94108, Troina, Italy.ORCID http://orcid.org/0000-0003-1049-0683
Lucia CastigliaOasi Research Institute-IRCCS, 94108, Troina, Italy.
Maria BottittaOasi Research Institute-IRCCS, 94108, Troina, Italy.
Shweta U DharDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Deanna J ErwinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Lisa EmrickDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Boris KerenDépartement de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013, Paris, France.
Alexandra AfenjarAPHP, Centre de référence des malformations et maladies congénitales du cervelet Département de génétique et embryologie médicale, GRCn°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France.
Baosheng ZhuDepartment of Pediatrics, The First People's Hospital of Yunnan Province, 650032, Kunming, Yunnan, China.
Bing BaiDepartment of Pediatrics, The First People's Hospital of Yunnan Province, 650032, Kunming, Yunnan, China.
Pawel StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Kristin HermanSection of Medical Genomics, Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento, CA, 95817, USA.
University of Washington Center for Mendelian Genomics
Saadet Mercimek-AndrewsDivision of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.ORCID http://orcid.org/0000-0001-8396-6764
Jane JuusolaGeneDx, Gaithersburg, MD, 20877, USA.
Amy B WilfertDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.ORCID http://orcid.org/0000-0001-8590-222X
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID http://orcid.org/0000-0002-1542-1399
Benjamin BüttnerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Heather C MeffordDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.
Alison M MuirDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.ORCID http://orcid.org/0000-0002-9420-085X
Ingrid E SchefferDepartments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, VIC, 3084, Australia.
Brigid M ReganDepartments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, VIC, 3084, Australia.
Stephen MaloneDepartment of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, 4101, Australia.
Jozef GeczSchool of Medicine and the Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, Adelaide, SA, 5006, Australia.ORCID http://orcid.org/0000-0002-7884-6861
Jan CobbenEmma Children's Hospital AUMC, 1105 AZ, Amsterdam, The Netherlands.
Marjan M WeissAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, Amsterdam, Netherlands.ORCID http://orcid.org/0000-0002-0936-1406
Quinten WaisfiszAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, Amsterdam, Netherlands.
Emilia K BijlsmaDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.
Mariëtte J V HofferDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.
Claudia A L RuivenkampDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.
Stefano SartoriPaediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padua, 35128, Padua, Italy.ORCID http://orcid.org/0000-0002-0012-6848
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID http://orcid.org/0000-0002-4974-9851
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Raphael A BernierDepartment of Psychiatry, University of Washington, Seattle, WA, 98195, USA.
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID http://orcid.org/0000-0003-2172-8036
Kun XiaCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
Alexander P A StegmannDepartment of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Hugo J BellenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID http://orcid.org/0000-0001-5992-5989
Alessandra MurgiaLaboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy. alessandra.murgia@unipd.it.ORCID http://orcid.org/0000-0001-6788-0653
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA. eee@gs.washington.edu.ORCID http://orcid.org/0000-0002-8246-4014
Baylor College of Medicine · USCentral South University · CNRadboud University Nijmegen · NLUniversity of Padua · ITUniversity of Washington · USLeiden University Medical Center · NLOasi Maria SS · ITHoward Hughes Medical Institute · USKunming University of Science and Technology · CNNormandie Université · FRRoyal Children's Hospital · AUThe University of Melbourne · AUUniversity of Toronto · CAAssistance Publique – Hôpitaux de Paris · FREmma Kinderziekenhuis · NLGreenwood Genetic Center · USLeipzig University · DELondon North West Healthcare NHS Trust · GBMaastricht University Medical Centre · NLSorbonne Université · FR
Funding
INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2MUW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MTransposon induced disruption of most Drosophila genesR01GM067858 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2003 to 2020
$15.7MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MSporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MIntellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI DOHERTY, DANIEL · 2014 to 2019
$7.9MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, SAMACO, RODNEY C · 2014 to 2019
$7.8MZebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5MExpansion and characterization of the Drosophila Toolkit to study SARS-CoV-2R24OD022005 · OD · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2016 to 2023
$7.4MA Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9MPhenotypic Characterization of Gene Disrupting Mutations in ASDR01MH100047 · NIMH · UNIVERSITY OF WASHINGTON · PI BERNIER, RAPHAEL A · 2014 to 2018
$2.1MStructural and behavioral impact of ASD-associated variants of NRXN1 in Drosophila melanogaster.F32NS110174 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI ANDREWS, JONATHAN · 2018 to 2020
$162kNHGRI NIH HHS T32 HG000035NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NICHD NIH HHS U54 HD083091NICHD NIH HHS U54 HD083092NIGMS NIH HHS R01 GM067858NIH HHS R24 OD022005NIMH NIH HHS R01 MH100047NIMH NIH HHS R01 MH101221NINDS NIH HHS F32 NS110174NINDS NIH HHS R01 NS069605NINDS NIH HHS U54 NS093793
Abstract
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Indexed as
AdolescentAdultAnimalsAutistic DisorderBehavior, AnimalBrainChildChild, PreschoolCraniofacial AbnormalitiesDevelopmental DisabilitiesDrosophila melanogasterDrosophila ProteinsEpilepsyExome SequencingFemaleHumansDrosophila ProteinsMembrane ProteinsMuscle ProteinsNerve Tissue Proteinspostsynaptic density proteinsProteinsrols protein, DrosophilaTANC2 protein, human
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.