ArticleNature communications2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
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Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
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5 citing papers in PubMed, 10 citations in OpenAlex.
- SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.Annals of clinical and translational neurology · 2026Article
- Exploring Potential Drug Targets in Multiple Cardiovascular Diseases: A Study Based on Proteome-Wide Mendelian Randomization and Colocalization Analysis.Cardiovascular therapeutics · 2025Article
- Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.European journal of human genetics : EJHG · 2024Article
- Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.Annals of clinical and translational neurology · 2024Article
- Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.bioRxiv : the preprint server for biology · 2024Article
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Authors and funding
57 authors at 20 institutions in 9 countries.
Marwan Nashabat *Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Nasrinsadat Nabavizadeh *Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.ORCID 0000-0002-1629-6956
Hilal Pırıl Saraçoğlu *Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.ORCID 0000-0002-3734-489X
Burak SarıbaşLaboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.ORCID 0000-0003-4329-0418
Şahin AvcıDiagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.
Esra BörklüDiagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.ORCID 0000-0002-1326-0608
Emmanuel BeillardDepartment of Biopathology, Centre Léon Bérard, Lyon, France.ORCID 0000-0002-2546-7614
Elanur YılmazLaboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.ORCID 0000-0001-7045-5068
Seyide Ecesu UygurLaboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Cavit Kerem KayhanPathology Laboratory, Acıbadem Maslak Hospital, Istanbul, Turkey.ORCID 0000-0001-5754-9289
Luca BoscoUnit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Zeynep Bengi ErenLaboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Katharina SteindlInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Manuela Friederike RichterDepartment of Neonatology, Children's and Youth Hospital Auf der Bult, Hannover, Germany.ORCID 0000-0002-5735-4526
Guney BademciDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Anita RauchInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.ORCID 0000-0003-2930-3163
Zohreh FattahiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Maria Lucia ValentinoIRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
Anne M ConnollyDivision of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA.
Angela BahrInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Laura ViolaUnit of Clinical Pediatrics, State Hospital, San Marino Republic, Italy.ORCID 0000-0001-7410-6869
Anke Katharina BergmannDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.ORCID 0000-0002-1367-2725
Maria Eugenia RochaCENTOGENE GmbH, Rostock, Germany.
LeShon PeartDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID 0000-0003-1068-1906
Derly Liseth Castro-RojasGenomics Laboratory, Center of Immunology and Genetics (CIGE), SURA Ayudas Diagnosticas, Medellín, Colombia.
Eva BültmannInstitute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
Suliman KhanCENTOGENE GmbH, Rostock, Germany.
Miriam Liliana GiarranaDivision of Sleep Medicine, University Children's Hospital Zurich, Zurich, Switzerland.
Raluca Ioana TeleanuDr Victor Gomoiu Children's Hospital, Bucharest, Romania.
Joanna Michelle GonzalezDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Antonella PiniNeuromuscular Pediatric Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
Ines Sophie SchädlichDepartment of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg-Eppendorf, Germany.
Katharina VillDepartment of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.
Melanie BruggerDepartment of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.ORCID 0000-0002-6920-8550
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Andreia PintoCENTOGENE GmbH, Rostock, Germany.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Stephanie Ann BivonaDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Anca RizaHuman Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.
Undiagnosed Diseases Network
Ioana StreataHuman Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.
Dieter GläserGenetikum, Neu-Ulm, Germany.
Carolina Baquero-MontoyaPediatric department, Hospital Pablo Tobon Uribe, SURA Ayudas Diagnosticas, Medellín, Colombia.
Natalia Garcia-RestrepoUniversidad de Manizales, Manizales, Caldas, Colombia.
Urania KotzaeridouDivision of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Theresa BrunetDepartment of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.ORCID 0000-0002-5183-780X
Diana Anamaria EpureDr Victor Gomoiu Children's Hospital, Bucharest, Romania.
Aida Bertoli-AvellaCENTOGENE GmbH, Rostock, Germany.ORCID 0000-0001-9544-1877
Ariana KariminejadKariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran.
Mustafa TekinDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID 0000-0002-3525-7960
Sandra von HardenbergDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5930-2324
Georg M StettnerNeuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.ORCID 0000-0002-0906-8816
Ginevra ZanniUnit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID 0000-0002-6367-1843
Hülya KayseriliDiagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.ORCID 0000-0003-0376-499X
Zehra Piraye OflazerDepartment of Neurology, Koç University Hospital Muscle Center, Istanbul, Turkey.ORCID 0000-0001-8202-5313
Nathalie Escande-BeillardLaboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey. nbeillard@ku.edu.tr.ORCID 0000-0002-7706-1608
Koç University · TRUniversity of Miami · USCentogene (Germany) · DEUniversity of Zurich · CHNational Institutes of Health · USHeidelberg University · DEInstitute of Neurological Sciences · ITLMU Klinikum · DEMedizinische Hochschule Hannover · DEUniversity of Medicine and Pharmacy of Craiova · ROAcıbadem University · TRCarol Davila University of Medicine and Pharmacy · ROCentre Léon Bérard · FRGenetikum · DEHospital Pablo Tobon Uribe · COKinderkrankenhaus auf der Bult · DENationwide Children's Hospital · USRoma Tre University · ITSpitalul Clinic Dr. Victor Babes · ROTechnical University of Munich · DE
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MThe Undiagnosed Diseases Network Clinical Site of MiamiU01NS134353 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN, Stephan Zuchner · 2023 to 2026
$3.1MExploring minorities The Undiagnosed Diseases Network Clinical Site of MiamiU01HG010230 · NHGRI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI TEKIN, MUSTAFA, ZUCHNER, STEPHAN · 2018 to 2021
$2.6MNHGRI NIH HHS U01 HG010230NINDS NIH HHS U01 NS134353
Abstract
SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients' primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis.
Indexed as
Muscular DystrophiesChildHumansReceptors, Cytoplasmic and NuclearRibonucleoproteins, Small NuclearRNARNA Cap-Binding ProteinsRNA SplicingSpliceosomesReceptors, Cytoplasmic and NuclearRibonucleoproteins, Small NuclearRNARNA Cap-Binding ProteinsSNUPN protein, human
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