ArticleJournal of medical genetics2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
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Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24citing papers in PubMed
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Who cites it
24 citing papers in PubMed, 40 citations in OpenAlex.
- Selective interaction of SMCHD1 with chromatin is governed by LRIF1 and SMCHD1 ATPase activity.Nature communications · 2026Article
- Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy.Journal of human genetics · 2025Review
- Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis.Journal of medical genetics · 2025Article
- SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.European journal of human genetics : EJHG · 2025Article
- Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.Clinical genetics · 2024Review
- Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.BMC medical genomics · 2024Article
- SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.Nature communications · 2023Article
- DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.Science advances · 2023Article
- Facioscapulohumeral muscular dystrophy: the road to targeted therapies.Nature reviews. Neurology · 2023Review
- Whole exome sequencing highlights rare variants inFrontiers in genetics · 2023Article
- Epigenetic modifier SMCHD1 maintains a normal pool of long-term hematopoietic stem cells.iScience · 2022Article
- High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.Human molecular genetics · 2022Article
- Chromosome 10q-linked FSHD identifiesJournal of medical genetics · 2022Article
- Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.Frontiers in genome editing · 2022Review
- A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.Scientific reports · 2021Article
- Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects.Diagnostics (Basel, Switzerland) · 2021Article
- Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.EMBO molecular medicine · 2021Review
- Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update.Orphanet journal of rare diseases · 2021Review
- Good Outcome for an Individual with Severe Facial Anomalies and Hypogonadotropic Hypogonadism: A Consequence of His Cognitive Function, Pragmatic Approach, and Temperament.Case reports in pediatrics · 2021Article
- Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.Skeletal muscle · 2020Article
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 5 countries.
Richard J L F LemmersHuman Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands r.j.l.f.lemmers@lumc.nl.ORCID 0000-0002-7102-710X
Nienke van der StoepDepartment of Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leids Universitair Medisch Centrum, Leiden, The Netherlands.
Patrick J van der VlietHuman Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands.
Steven A MooreDepartment of Pathology, University of Iowa, Iowa City, Iowa, USA.
David San Leon GranadoHuman Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands.
Katherine JohnsonJohn Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Ana TopfJohn Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Teresinha EvangelistaUnité de Morphologie Neuromusculaire, Institut de Myologie, Paris, France.
Tahseen MozaffarDepartment of Neurology, University of California Irvine, Irvine, California, USA.
Virginia KimonisDepartment of Pediatrics, University of California, Irvine, Irvine, California, USA.ORCID 0000-0003-1567-4449
Natalie D ShawResearch Triangle Park, Research Triangle Park, NC, USA.
Rita SelvaticiDepartment of Medical Sciences; Medical Genetics Unit, University of Ferrara, Ferrara, Italy.
Alessandra FerliniDipartimento di Medicina Sperimentale e Diagnostica, Università di Ferrara, Ferrara, Italy.
Nicol VoermansDepartment of Neurology, Radboudumc, Nijmegen, Gelderland, The Netherlands.
Baziel van EngelenDepartment of Neurology, Radboudumc, Nijmegen, Gelderland, The Netherlands.
Sabrina SacconiCentre de Référence Maladies Neuromusculaires, Hôpital Archet, Nice, France.
Rabi TawilDepartment of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
Meindert LamersDepartment of Cell and Chemical Biology, Leiden Universitair Medisch Centrum, Leiden, The Netherlands.
Silvère M van der MaarelHuman Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands.
Leiden University Medical Center · NLMuscular Dystrophy UK · GBRadboud University Nijmegen · NLUniversity of California, Irvine · USUniversity of Ferrara · ITHôpital l'Archet · FRInstitut de Myologie · FRTriangle · USUniversity of Iowa · USUniversity of Rochester Medical Center · US
Funding
Therapeutic Potential of ESC-Derived Myogenic PrecursorsU54NS053672 · NINDS · UNIVERSITY OF IOWA · PI CAMPBELL, KEVIN P. · 2005 to 2019
$22.0MInvestigation of the genetic architecture and phenotypic spectrum of Bosma arhinia microphthalmia syndromeZIAES103327 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SHAW, NATALIE · 2017 to 2025
$15.5MThe Pathogenesis of Facioscapulohumeral Muscular DystrophyP01NS069539 · NINDS · FRED HUTCHINSON CANCER RESEARCH CENTER · PI TAPSCOTT, STEPHEN J · 2010 to 2019
$12.3MMuscular Dystrophy Specialized Research Center: Project 2P50NS053672 · NINDS · UNIVERSITY OF IOWA · PI KEVIN P. CAMPBELL · 2020 to 2026
$11.9MMYOTONIC DYSTROPHY LOCUS CONTROLR01AR045203 · NIAMS · FRED HUTCHINSON CANCER RESEARCH CENTER · PI TAPSCOTT, STEPHEN J · 1998 to 2025
$9.4MSMCHD1 Pathways as Candidate Targets for FSHDR01AR066248 · NIAMS · FRED HUTCHINSON CANCER RESEARCH CENTER · PI TAPSCOTT, STEPHEN J · 2014 to 2024
$4.5MNIAMS NIH HHS R01 AR045203NIAMS NIH HHS R01 AR066248NIEHS NIH HHS ZIA ES103327NINDS NIH HHS P01 NS069539NINDS NIH HHS P50 NS053672NINDS NIH HHS U54 NS053672
Abstract
backgroundVariants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (
methodsExamination of
results
conclusionsThe localisation of missense variants within the ATPase domain of SMCHD1 may contribute to the differences in phenotypic outcome.
Indexed as
Adenosine TriphosphatasesChoanal AtresiaChromosomal Proteins, Non-HistoneDNA MethylationFemaleGenetic VariationHumansMaleMicrophthalmosMuscular Dystrophy, FacioscapulohumeralMutationMutation, MissenseNoseProtein DomainsAdenosine TriphosphatasesChromosomal Proteins, Non-HistoneSMCHD1 protein, humanATPase domainBAMSD4Z4DUX4FSHDmutation spectrumSMCHD1
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