ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 9 citations in OpenAlex.
- Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.Italian journal of pediatrics · 2026Article
- Prenatal and postnatal effects of gestational immune activation on synaptic and neurodevelopmental pathways via epigenetic mechanisms.Translational psychiatry · 2026Article
- The Role of Protein Arginine Methylation as a Post-Translational Modification in Cellular Homeostasis and Disease.Biology · 2025Review
- Protein Arginine Methyltransferases from Regulatory Function to Clinical Implication in Central Nervous System.Cellular and molecular neurobiology · 2025Review
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- A role for protein arginine methyltransferase 7 in repetitive and mild traumatic brain injury.Neurochemistry international · 2023Article
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Authors and funding
67 authors at 20 institutions in 16 countries.
Elisa CaliDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Mohnish SuriNottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom.
Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Matteo P FerlaGenomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom.
Shahryar AlaviDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran; Palindrome, Isfahan, Iran.
Eissa Ali FaqeihSection of Medical Genetics, Children's Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia.
Emilia K BijlsmaDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kristen M WigbyDivision of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, CA.
Diana BaralleWessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom; Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, United Kingdom.
Mohammad Y V MehrjardiMedical Genetics Research Center, Shahid Sadoughi University of Medical Science, Yazd, Iran.
Jennifer SchwabDivision of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Katharina SteindlInstitute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Mais HashemDepartment of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Marilyn JonesDivision of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, CA.
Dmitriy M NiyazovSection of Medical Genetics, Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA.
Jennifer JacoberSection of Medical Genetics, Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA.
Rebecca Okashah LittlejohnDepartment of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX.
Denisa WeisDepartment of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria.
Neda ZadehChildren's Hospital of Orange County, Orange, CA; Genetics Center, Orange, California.
Lance RodanDepartment of Neurology, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
Alice GoldenbergDepartment of Genetics and Reference Center for Developmental Disorders, Normandie University, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, Rouen, France.
François LecoquierreDepartment of Genetics and Reference Center for Developmental Disorders, Normandie University, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, Rouen, France.
Marina Dutra-ClarkeDivision of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA.
Gabriella HorvathBC Children's Hospital Research Institute, BC Children's Hospital, Vancouver, British Columbia, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada.
Dana YoungAdult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, Canada.
Naama OrensteinPediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Shahad BawazeerSection of Medical Genetics, Children's Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia.
Anneke T Vulto-van SilfhoutDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Yvan HerengerGenetica AG, Zürich, Switzerland.
Mohammadreza DehghaniMedical Genetics Research Center, Shahid Sadoughi University of Medical Science, Yazd, Iran.
Seyed Mohammad SeyedhassaniDr. Seyedhassani Medical Genetic Center, Yazd, Iran.
Amir BahreiniPalindrome, Isfahan, Iran; KaryoGen, Isfahan, Iran; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA.
Mahya E NasabDr. Seyedhassani Medical Genetic Center, Yazd, Iran.
A Gulhan Ercan-SencicekDepartment of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, CT; Masonic Medical Research Institute, Utica, NY.
Zahra FiroozfarDepartment of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran; Palindrome, Isfahan, Iran.
Mojtaba MovahediniaChildren Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Ehsan Ghayoor KarimianiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
Vincenzo SalpietroDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Jenny C TaylorGenomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom.
Melody RedmanYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.
Alexander P A StegmannDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Andreas LanerMGZ - Medizinisch Genetisches Zentrum, Munich, Germany.
Ghada Abdel-SalamHuman Genetics and Genome Research Division, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Megan LiInvitae, San Francisco, CA.
Mario BengalaLaboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
Amelie Johanna MüllerAutophagy Laboratory, Department of Molecular Biology, Interfaculty Institute of Cell Biology, Eberhard Karls University Tuebingen, Tuebingen, Germany.
Maria C DigilioMedical Genetics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Anita RauchInstitute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Murat GunelDepartment of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, CT.
Hannah TitheradgeWest Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom; Women's and Children's NHS Trust, Birmingham, United Kingdom.
Daniela N SchweitzerDivision of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA.
Alison KrausYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom; Castle Hill Hospital, Cottingham, Hull, United Kingdom.
Irene ValenzuelaDepartment of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.
Scott D McLeanDepartment of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX.
Chanika PhornphutkulSection of Medical Genetics, Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA.
Mustafa SalihDivision of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics, College of Medicine, AlMughtaribeen University, Khartoum, Sudan.
Amber BegtrupGeneDx, Gaithersburg, MD.
Rhonda E SchnurGeneDx, Gaithersburg, MD.
Erin TortiGeneDx, Gaithersburg, MD.
Tobias B HaackInstitute of Human Genetics and Applied Genomics University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Carlos E PradaDepartment of Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL.
Fowzan S AlkurayaDepartment of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.
Istituto Giannina Gaslini · ITNational Hospital for Neurology and Neurosurgery · GBOchsner Health System · USShahid Sadoughi University of Medical Sciences and Health Services · IRBaylor College of Medicine · USCentre for Human Genetics · GBChapel Allerton Hospital · GBInserm · FRIsfahan University of Technology · IRRadboud University Nijmegen · NLRady Children's Hospital-San Diego · USUniversity of California, Los Angeles · USUniversity of Tübingen · DEUniversity of Zurich · CHYale University · USAlfaisal University · SABambino Gesù Children's Hospital · ITBirmingham Women’s and Children’s NHS Foundation Trust · GBBoston Children's Hospital · USBrown University · US
Funding
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MDepartment of Health RP-2016-07-011Medical Research Council MR/S01165X/1NHGRI NIH HHS UM1 HG006504Wellcome TrustWellcome Trust 203141/Z/16/ZWellcome Trust WT093205MAWellcome Trust WT104033AIA
Abstract
purposeProtein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder.
methodsWe assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 individuals from the literature.
resultsThe main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw. Additional variable findings include seizures, obesity, nonspecific magnetic resonance imaging abnormalities, eye abnormalities (i.e., strabismus or nystagmus), and hearing loss.
conclusionThis study further delineates and expands the molecular, phenotypic spectrum and natural history of PRMT7-related syndrome characterized by a neurodevelopmental disorder with skeletal, growth, and endocrine abnormalities.
Indexed as
BrachydactylyDwarfismIntellectual DisabilityMusculoskeletal AbnormalitiesNeurodevelopmental DisordersHumansObesityPhenotypeProtein-Arginine N-MethyltransferasesPRMT7 protein, humanProtein-Arginine N-MethyltransferasesChromatinopathyMendelian disorders of the epigenetic machineryPRMT7Syndromic neurodevelopmental disorderSyndromic obesity
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