ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
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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 12 papers.
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12 citing papers in PubMed, 26 citations in OpenAlex.
- ZiclagueOrphanet journal of rare diseases · 2025Trial
- Accurate genomic predictions for chronic wasting disease in North American elk.G3 (Bethesda, Md.) · 2026Article
- Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review.BMC neurology · 2026Review
- Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights.Current neurology and neuroscience reports · 2025Review
- Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration.Current neurology and neuroscience reports · 2025Review
- Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.Molecular biology reports · 2025Article
- AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.Journal of neurology · 2025Article
- Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.Brain communications · 2025Article
- Cell type-specific gene therapy confers protection against motor neuron disease caused by a TFG variant.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- High heterogeneity of cross-reactive immunoglobulins in multiple sclerosis presumes combining of B-cell epitopes for diagnostics: a case-control study.Frontiers in immunology · 2024Article
- The loss of βΙ spectrin alters synaptic size and composition in theFrontiers in neuroscience · 2024Article
- Prediction Model for Sensory Perception Abnormality in Autism Spectrum Disorder.International journal of molecular sciences · 2023Article
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Authors and funding
51 authors at 20 institutions in 7 countries.
Heba MorsyDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. Electronic address: heba.morsy@ucl.ac.uk.
Mehdi BenkiraneDepartment of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France.
Elisa CaliDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.
Clarissa RoccaDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.
Kristina ZhelcheskaDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.
Valentina CiprianiWilliam Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Evangelia GalanakiDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.
David MurphyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Mary O'DriscollWest Midlands Regional Clinical Genetics Service, Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom.
Mohnish SuriNottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
Siddharth BankaDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Jill Clayton-SmithDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Thomas WrightManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Melody RedmanDepartment of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
Jennifer A BassettiDepartment of Pediatrics, Weill Cornell Medicine, New York, NY.
Mathilde NizonThorax Institute, Nantes University, CNRS, INSERM, Nantes, France.
Benjamin CogneThorax Institute, Nantes University, CNRS, INSERM, Nantes, France; Department of Medical Genetics, Nantes University Hospital, Nantes, France.
Rami Abu JamraMVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany; Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany.
Tobias BartolomaeusMVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany; Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany.
Marion HeruthMVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany.
Ilona KreyInstitute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany.
Janina Gburek-AugustatDivision of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany.
Felix GattermannInstitute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany.
Meriel McentagartMedical Genetics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
Alice GoldenbergDepartment of Medical Genetics, Rouen University Hospital, Rouen, France.
Lucie Guyant-MarechalDepartment of Pediatric Neurology, Marseille University Hospital, Marseille, France.
Hector Garcia-MorenoDepartment of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Paola GiuntiDepartment of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Brigitte ChabrolReference Center for Inherited Metabolic Diseases, Marseille University Hospital, Marseille, France.
Severine BacrotDepartment of Molecular Genetics, Versailles Hospital, Versailles, France.
Roger BuissonnièreDepartment of Pediatrics, Versailles Hospital, Versailles, France.
Virginie MagryDepartment of Molecular Genetics, Amiens-Picardie University Hospital, Amiens, France.
Vykuntaraju K GowdaDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Varunvenkat M SrinivasanDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Béla MeleghDepartment of Medical Genetics, Clinical Centre, School of Medicine, University of Pécs, Pécs, Hungary.
András SzabóDepartment of Medical Genetics, Clinical Centre, School of Medicine, University of Pécs, Pécs, Hungary.
Katalin SümegiDepartment of Biochemistry and Medical Chemistry, Medical School, University of Pécs, Pécs, Hungary.
Mireille CosséeDepartment of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France.
Monica ZiffClinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Russell ButterfieldDivision of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, University of Utah Health, Salt Lake City, UT.
David HuntWessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kigngdom.
Georgina Bird-LiebermanSouthampton Children's Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
Michael HannaDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.
Michel KoenigDepartment of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France.
Michael StankewichDepartment of Pathology, Yale School of Medicine, New Haven, CT.
Jana VandrovcovaDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.
Henry HouldenDepartment of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom. Electronic address: h.houlden@ucl.ac.uk.
Genomics England Research Consortium
National Hospital for Neurology and Neurosurgery · GBCentre National de la Recherche Scientifique · FRUniversity College London Hospitals NHS Foundation Trust · GBCentre Hospitalier de Versailles · FRUniversity Hospital Leipzig · DEUniversity of Pecs · HUUniversity of Utah · USAssistance Publique Hôpitaux de Marseille · FRCentre Hospitalier Universitaire Amiens-Picardie · FRCornell University · USDüsseldorf University Hospital · DEGreat Ormond Street Hospital for Children NHS Foundation Trust · GBIndira Gandhi Institute of Child Health · INInserm · FRManchester University NHS Foundation Trust · GBQueen Mary University of London · GBUniversity of Manchester · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBChapel Allerton Hospital · GBLeipzig University · DE
Funding
Cancer Research UKDepartment of HealthMedical Research Council G0601943Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1Wellcome TrustWellcome Trust 220906/Z/20/ZWellcome Trust WT098051
Abstract
purposeNonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic spectrum of SPTAN1 variants.
methodsWe carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Functional studies were performed on fibroblasts from 2 patients.
resultsStatistically significant enrichment of rare (minor allele frequency < 1 × 10
conclusionWe found that SPTAN1 is a genetic cause of neurodevelopmental disorder, which we classified into 3 distinct subgroups. The first comprises developmental epileptic encephalopathy. The second group exhibits milder phenotypes of developmental delay with or without seizures. The final group accounts for patients with pure or complex HSP/HA.
Indexed as
EpilepsySpastic Paraplegia, HereditaryAtaxiaHumansMutationParaplegiaPedigreePhenotypeSeizuresSpectrinSpectrinDevelopmental delayDevelopmental epileptic encephalopathyHereditary ataxiaHereditary spastic paraplegiaSPTAN1
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