A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.
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| Title: | A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide. |
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| Authors: | Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.; Rutgers New Jersey Medical School, Newark, NJ.; Undiagnosed Diseases Program, NIH, Bethesda MD., Nguyen AD; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD., Cassini T; Department of Pediatrics, Vanderbilt University Medical Center, Nashville TN., Koziura M; Department of Pediatrics, Vanderbilt University Medical Center, Nashville TN., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD., Winkelsas AM; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Masati E; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Nandi S; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Harmison G; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Johnson B; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Johnson K; Bioinformatics Core, NINDS, NIH Bethesda MD., Kargbo-Hill SE; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Bussgang JJ; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Misra J; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Sharma I; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Bontrager JE; University of Rochester Medical Center, Department of Neurology, NY., Herrmann DN; University of Rochester Medical Center, Department of Neurology, NY., Vetrini F; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA., Conboy E; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA., Comer A; Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA., Treat K; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA., Payne K; Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA., Liaqat K; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA., Patankar AG; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Meyer AP; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH., Connolly AM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.; Division of Neurology, Nationwide Children's Hospital, Columbus, OH., Shell R; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.; Division of Pulmonary, Sleep and CF, Nationwide Children's Hospital, Columbus OH., Miller AR; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA., Kulsirichawaroj P; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Siriraj Center of Research Excellence in Neuromuscular Disease, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA., Sanmaneechai O; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Siriraj Center of Research Excellence in Neuromuscular Disease, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Sakpichaisakul K; Department of Pediatrics, Queen Sirikit National Institute of Child Health, Ministry of Public Health, Bangkok, Thailand.; College of Medicine, Rangsit University, Bangkok, Thailand., Park K; Stem Cell Unit, NINDS, NIH Bethesda MD., Li Y; Proteomics Core Facility, NINDS, NIH Bethesda MD., Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.; Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH.; Division of Neurology, Nationwide Children's Hospital, Columbus, OH., Macken W; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, Queen Square House, London WC1N 3BG, UK., Sarkozy A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, Institute of Child Health, University College London, London, UK., Polke J; National Hospital for Neurology and Neurosurgery and North Thames Genomics Laboratory Hub Rare Disease Laboratory, Queen Square, London, UK., Manzur AY; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, Institute of Child Health, University College London, London, UK., Reghan Foley A; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD., Chao KR; Broad Institute of MIT/Harvard, Boston MA., Neuhaus S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD., Adams DR; Office of the clinical director, NHGRI, NIH Bethesda MD., Ward M; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD., Grunseich C; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD. |
| Source: | MedRxiv : the preprint server for health sciences [medRxiv] 2026 Apr 29. Date of Electronic Publication: 2026 Apr 29. |
| Publication Type: | Journal Article; Preprint |
| Journal Info: | Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42388886 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Silverstein+S%22">Silverstein S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.; Rutgers New Jersey Medical School, Newark, NJ.; Undiagnosed Diseases Program, NIH, Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Nguyen+AD%22">Nguyen AD</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Orbach+R%22">Orbach R</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Cassini+T%22">Cassini T</searchLink>; Department of Pediatrics, Vanderbilt University Medical Center, Nashville TN.<br /><searchLink fieldCode="AU" term="%22Koziura+M%22">Koziura M</searchLink>; Department of Pediatrics, Vanderbilt University Medical Center, Nashville TN.<br /><searchLink fieldCode="AU" term="%22Bolduc+V%22">Bolduc V</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Winkelsas+AM%22">Winkelsas AM</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Masati+E%22">Masati E</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Nandi+S%22">Nandi S</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Harmison+G%22">Harmison G</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Johnson+B%22">Johnson B</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Johnson+K%22">Johnson K</searchLink>; Bioinformatics Core, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Kargbo-Hill+SE%22">Kargbo-Hill SE</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Bussgang+JJ%22">Bussgang JJ</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Misra+J%22">Misra J</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Sharma+I%22">Sharma I</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Bontrager+JE%22">Bontrager JE</searchLink>; University of Rochester Medical Center, Department of Neurology, NY.<br /><searchLink fieldCode="AU" term="%22Herrmann+DN%22">Herrmann DN</searchLink>; University of Rochester Medical Center, Department of Neurology, NY.<br /><searchLink fieldCode="AU" term="%22Vetrini+F%22">Vetrini F</searchLink>; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.<br /><searchLink fieldCode="AU" term="%22Conboy+E%22">Conboy E</searchLink>; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.<br /><searchLink fieldCode="AU" term="%22Comer+A%22">Comer A</searchLink>; Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.<br /><searchLink fieldCode="AU" term="%22Treat+K%22">Treat K</searchLink>; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.<br /><searchLink fieldCode="AU" term="%22Payne+K%22">Payne K</searchLink>; Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.<br /><searchLink fieldCode="AU" term="%22Liaqat+K%22">Liaqat K</searchLink>; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.<br /><searchLink fieldCode="AU" term="%22Patankar+AG%22">Patankar AG</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Meyer+AP%22">Meyer AP</searchLink>; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Connolly+AM%22">Connolly AM</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.; Division of Neurology, Nationwide Children's Hospital, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Shell+R%22">Shell R</searchLink>; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.; Division of Pulmonary, Sleep and CF, Nationwide Children's Hospital, Columbus OH.<br /><searchLink fieldCode="AU" term="%22Miller+AR%22">Miller AR</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.<br /><searchLink fieldCode="AU" term="%22Kulsirichawaroj+P%22">Kulsirichawaroj P</searchLink>; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Siriraj Center of Research Excellence in Neuromuscular Disease, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Undiagnosed Rare Disease Clinic (URDC), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.<br /><searchLink fieldCode="AU" term="%22Sanmaneechai+O%22">Sanmaneechai O</searchLink>; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Siriraj Center of Research Excellence in Neuromuscular Disease, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Sakpichaisakul+K%22">Sakpichaisakul K</searchLink>; Department of Pediatrics, Queen Sirikit National Institute of Child Health, Ministry of Public Health, Bangkok, Thailand.; College of Medicine, Rangsit University, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Park+K%22">Park K</searchLink>; Stem Cell Unit, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Proteomics Core Facility, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Bharucha-Goebel+D%22">Bharucha-Goebel D</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.; Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH.; Division of Neurology, Nationwide Children's Hospital, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Macken+W%22">Macken W</searchLink>; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, Queen Square House, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Sarkozy+A%22">Sarkozy A</searchLink>; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, Institute of Child Health, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Polke+J%22">Polke J</searchLink>; National Hospital for Neurology and Neurosurgery and North Thames Genomics Laboratory Hub Rare Disease Laboratory, Queen Square, London, UK.<br /><searchLink fieldCode="AU" term="%22Manzur+AY%22">Manzur AY</searchLink>; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, Institute of Child Health, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Reghan+Foley+A%22">Reghan Foley A</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Chao+KR%22">Chao KR</searchLink>; Broad Institute of MIT/Harvard, Boston MA.<br /><searchLink fieldCode="AU" term="%22Neuhaus+S%22">Neuhaus S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Adams+DR%22">Adams DR</searchLink>; Office of the clinical director, NHGRI, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Ward+M%22">Ward M</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda MD.<br /><searchLink fieldCode="AU" term="%22Grunseich+C%22">Grunseich C</searchLink>; Inherited Neuromuscular Disease Unit, Neurogenetics Branch, NINDS, NIH Bethesda MD. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2026 Apr 29. <i>Date of Electronic Publication: </i>2026 Apr 29. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Preprint – Name: TitleSource Label: Journal Info Group: Src Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42388886 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.64898/2026.04.20.26351111 Languages: – Code: eng Text: English Titles: – TitleFull: A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Silverstein S – PersonEntity: Name: NameFull: Nguyen AD – PersonEntity: Name: NameFull: Orbach R – PersonEntity: Name: NameFull: Donkervoort S – PersonEntity: Name: NameFull: Cassini T – PersonEntity: Name: NameFull: Koziura M – PersonEntity: Name: NameFull: Bolduc V – PersonEntity: Name: NameFull: Winkelsas AM – PersonEntity: Name: NameFull: Masati E – PersonEntity: Name: NameFull: Nandi S – PersonEntity: Name: NameFull: Harmison G – PersonEntity: Name: NameFull: Johnson B – PersonEntity: Name: NameFull: Johnson K – PersonEntity: Name: NameFull: Kargbo-Hill SE – PersonEntity: Name: NameFull: Bussgang JJ – PersonEntity: Name: NameFull: Misra J – PersonEntity: Name: NameFull: Sharma I – PersonEntity: Name: NameFull: Bontrager JE – PersonEntity: Name: NameFull: Herrmann DN – PersonEntity: Name: NameFull: Vetrini F – PersonEntity: Name: NameFull: Conboy E – PersonEntity: Name: NameFull: Comer A – PersonEntity: Name: NameFull: Treat K – PersonEntity: Name: NameFull: Payne K – PersonEntity: Name: NameFull: Liaqat K – PersonEntity: Name: NameFull: Patankar AG – PersonEntity: Name: NameFull: Meyer AP – PersonEntity: Name: NameFull: Koboldt DC – PersonEntity: Name: NameFull: Connolly AM – PersonEntity: Name: NameFull: Shell R – PersonEntity: Name: NameFull: Miller AR – PersonEntity: Name: NameFull: Kulsirichawaroj P – PersonEntity: Name: NameFull: Sanmaneechai O – PersonEntity: Name: NameFull: Sakpichaisakul K – PersonEntity: Name: NameFull: Park K – PersonEntity: Name: NameFull: Li Y – PersonEntity: Name: NameFull: Bharucha-Goebel D – PersonEntity: Name: NameFull: Macken W – PersonEntity: Name: NameFull: Sarkozy A – PersonEntity: Name: NameFull: Polke J – PersonEntity: Name: NameFull: Manzur AY – PersonEntity: Name: NameFull: Reghan Foley A – PersonEntity: Name: NameFull: Chao KR – PersonEntity: Name: NameFull: Neuhaus S – PersonEntity: Name: NameFull: Adams DR – PersonEntity: Name: NameFull: Ward M – PersonEntity: Name: NameFull: Bönnemann CG – PersonEntity: Name: NameFull: Grunseich C IsPartOfRelationships: – BibEntity: Dates: – D: 29 M: 04 Text: 2026 Apr 29 Type: published Y: 2026 Titles: – TitleFull: MedRxiv : the preprint server for health sciences Type: main |
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