ArticleAmerican journal of human genetics2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 57 citations in OpenAlex.
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Authors and funding
43 authors at 16 institutions in 7 countries.
Caroline M DiasDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Jaya PunethaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Céline ZhengDepartment of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
Neda MazaheriDepartment of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, 6135783151, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, 6155689467, Iran.
Abolfazl RadCellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, 009851, Iran; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Andrea PetersenRandall Children's Hospital at Legacy Emanuel, Portland, OR 97227, USA.
Mohammadreza DehghaniMedical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Jennifer N PartlowDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Vincenzo SalpietroDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Alper GezdiriciDepartment of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, 34303, Turkey.
Reza Azizi MalamiriDepartment of Paediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6163764648, Iran.
Nihal M Al MenabawyPediatric Neurology and Metabolic Division, Cairo University Children Hospital, Egypt.
Laila A SelimPediatric Neurology and Metabolic Division, Cairo University Children Hospital, Egypt.
Mohammad Yahya Vahidi MehrjardiMedical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Selina BanuDepartment of Pediatric Neurology, ICH and SSF Hospital Mirpur, Dhaka, 1216, Bangladesh.
Daniel L PollaDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, 549 Brasília, Brazil.
Edward YangDepartment of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.
Jamileh Rezazadeh VaraghchiHasti Genetic Counseling Center of Welfare Organization of Southern Khorasan, Birjand, Iran.
Tadahiro MitaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ellen van BeusekomDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
Maryam NajafiGenome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
Alireza SedaghatHealth Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Jennifer Keller-RameyGeneDx, Gaithersburg, MD 20877, USA.
Leslie DurhamRandall Children's Hospital at Legacy Emanuel, Portland, OR 97227, USA.
Zeynep Coban-AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ender KaracaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Valeria OrlovaDepartment of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
Lieke L M SchaekenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
Amir SherafatDepartment of Neurology, Faculty of Medicine, Bam University of Medical Sciences, Bam, Iran.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Valentina StanleyLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Gholamreza ShariatiNarges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, 6155689467, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran.
Hamid GalehdariDepartment of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, 6135783151, Iran.
Joseph G GleesonLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Christopher A WalshDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Elena SeiradakeDepartment of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
Henry HouldenDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Hans van BokhovenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
Reza MaroofianDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK. Electronic address: r.maroofian@ucl.ac.uk.
Baylor College of Medicine · USRadboud University Medical Center · NLAhvaz Jundishapur University of Medical Sciences · IRHoward Hughes Medical Institute · USUniversity of Oxford · GBCairo University · EGHarvard University · USNational Hospital for Neurology and Neurosurgery · GBRadboud University Nijmegen · NLRandall Children's Hospital at Legacy Emanuel · USShahid Chamran University of Ahvaz · IRShahid Sadoughi University of Medical Sciences and Health Services · IRUniversity College London · GBBam University of Medical Sciences · IRBoston Children's Hospital · USİstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi · TR
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MHUMAN EPILEPSY GENETICS--NEURONAL MIGRATION DISORDERSR01NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 1997 to 2023
$9.5MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MMutidisciplinary Training;Brain Disorders &DevelopmentT32NS043124 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI SWANN, JOHN WILLIAM · 2002 to 2021
$4.6MJouberin and Nephrocystin in Joubert SyndromeR01NS052455 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2007 to 2015
$3.0MTranslational Post-doctoral Training in NeurodevelopmentT32MH112510 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI DAVID C GLAHN, CHARLES Alexander NELSON · 2017 to 2026
$2.6MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kHoward Hughes Medical InstituteMedical Research Council G0601943Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/J004758/1Medical Research Council MR/K000608/1Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1NHGRI NIH HHS K08 HG008986NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG006542NHGRI NIH HHS UM1 HG008900NIH HHS S10 OD018521NIMH NIH HHS T32 MH112510NINDS NIH HHS R01 NS035129NINDS NIH HHS R01 NS048453NINDS NIH HHS R01 NS052455NINDS NIH HHS R35 NS105078NINDS NIH HHS T32 NS043124The Dunhill Medical Trust R605/0717Wellcome Trust 202827/Z/16/ZWellcome Trust WT104033AIA
Abstract
NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. The variants disrupt highly conserved residues across the protein. Functional experiments, including in silico analysis of the protein structure, in vitro assessment of cell surface expression, and in vitro knockdown, revealed potential mechanisms of pathogenicity of the variants, including loss of protein function and decreased neurite outgrowth. Our data indicate that appropriate expression of NTNG2 plays an important role in neurotypical development.
Indexed as
AdolescentAdultChildChild, PreschoolExomeExome SequencingFemaleGPI-Linked ProteinsHomozygoteHumansIntellectual DisabilityMaleMutation, MissenseNetrinsNeurodevelopmental DisordersPedigreeGPI-Linked ProteinsNetrinsNTNG2 protein, humanautismdevelopmental delayintellectual disabilityneurodevelopmental disorderNTNG2
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