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The expanding clinical and genetic spectrum of DYNC1H1-related disorders
B. Möller, LL. Becker, A. Saffari, A. Afenjar, EG. Coci, R. Williamson, C. Ward-Melver, M. Gibaud, L. Sedláčková, P. Laššuthová, Z. Libá, M. Vlčková, N. William, EW. Klee, RH. Gavrilova, J. Lévy, Y. Capri, M. Scavina, RW. Körner, Z. Valivullah,...
Language English Country England, Great Britain
Document type Journal Article
Grant support
Broad Institute of MIT and Harvard
UM1 HG008900
NHGRI NIH HHS - United States
German Society for Muscle Diseases
P50 HD105351
NICHD NIH HHS - United States
NEI NIH HHS - United States
UM1HG008900
NHLBI NIH HHS - United States
AZV NU20-04-00279
Ministry of Health of the Czech Republic
NINDS NIH HHS - United States
European Union Horizon 2020 Programme
2446
Action Medical Research
Cologne Clinician Scientist Program/Medical Faculty/University of Cologne and German Research Foundation
P50HD105351
Boston Children's Hospital IDDRC Molecular Genetics Core Facility
Eunice Kennedy Shriver National Institute of Child Health and Human Development
PubMed
38848546
DOI
10.1093/brain/awae183
Knihovny.cz E-resources
- MeSH
- Cytoplasmic Dyneins * genetics MeSH
- Child MeSH
- Adult MeSH
- Phenotype MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Neurodevelopmental Disorders genetics MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in dynein axonemal chains, as well as cytoplasmic light and intermediate chains, have been linked with ciliary dyskinesia and skeletal dysplasia. The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons. Dominant pathogenic variants in DYNC1H1 have been previously implicated in peripheral neuromuscular disorders (NMD) and neurodevelopmental disorders (NDD). As heavy-chain dynein is ubiquitously expressed, the apparent selectivity of heavy chain dyneinopathy for motor neuronal phenotypes remains currently unaccounted for. Here, we aimed to evaluate the full DYNC1H1-related clinical, molecular and imaging spectrum, including multisystem features and novel phenotypes presenting throughout life. We identified 47 cases from 43 families with pathogenic heterozygous variants in DYNC1H1 (aged 0-59 years) and collected phenotypic data via a comprehensive standardized survey and clinical follow-up appointments. Most patients presented with divergent and previously unrecognized neurological and multisystem features, leading to significant delays in genetic testing and establishing the correct diagnosis. Neurological phenotypes include novel autonomic features, previously rarely described behavioral disorders, movement disorders and periventricular lesions. Sensory neuropathy was identified in nine patients (median age of onset 10.6 years), of which five were only diagnosed after the second decade of life, and three had a progressive age-dependent sensory neuropathy. Novel multisystem features included primary immunodeficiency, bilateral sensorineural hearing loss, organ anomalies and skeletal manifestations, resembling the phenotypic spectrum of other dyneinopathies. We also identified an age-dependent biphasic disease course with developmental regression in the first decade and, following a period of stability, neurodegenerative progression after the second decade of life. Of note, we observed several cases in whom neurodegeneration appeared to be prompted by intercurrent systemic infections with double-stranded DNA viruses (Herpesviridae) or single-stranded RNA viruses (Ross River fever, SARS-CoV-2). Moreover, the disease course appeared to be exacerbated by viral infections regardless of age and/or severity of neurodevelopmental disorder manifestations, indicating a role of dynein in anti-viral immunity and neuronal health. In summary, our findings expand the clinical, imaging and molecular spectrum of pathogenic DYNC1H1 variants beyond motor neuropathy disorders and suggest a life-long continuum and age-related progression due to deficient intracellular trafficking. This study will facilitate early diagnosis and improve counselling and health surveillance of affected patients.
Akron Children's Hospital Genetic Center Akron OH 44308 USA
Berlin University of Applied Sciences and Technology 10587 Berlin Germany
Center for Cardiovascular Genetics Boston Children's Hospital Boston MA 02115 USA
Center for Chronically Sick Children Charité Universitätsmedizin Berlin 13353 Berlin Germany
Center for Individualized Medicine Mayo Clinic Rochester MN 55901 USA
Center for Mendelian Genomics Broad Institute Harvard Cambridge MA 02142 USA
Department of Clinical Genetics Cambridge University Hospitals NHS Trust Cambridge CB2 3EH UK
Department of Medical Genetics University Hospital of Bordeaux 33076 Bordeaux France
Department of Neurology Maastricht University Medical Center 6229 HX Maastricht The Netherlands
Department of Paediatrics Otto von Guericke University Magdeburg 39120 Magdeburg Germany
Department of Pediatric Neurology Charité Universitätsmedizin Berlin 13353 Berlin Germany
Departments of Clinical Genomics and Neurology Mayo Clinic Rochester MN 55905 USA
Division of Neurology Nemours Children's Health Wilmington Delaware 19803 USA
Genetic Department Pitié Salpêtrière Hospital AP HP Sorbonne University 75013 Paris France
Genetics Department AP HP Robert Debré University Hospital 75019 Paris France
Genetics Department Nantes University CHU de Nantes 44000 Nantes France
Institute for Cell Biology and Neurobiology Charité Universitätsmedizin Berlin 13353 Berlin Germany
Max Planck Institute for Biology of Ageing 50931 Cologne Germany
Pediatric Neurology and Muscular Diseases Unit IRCCS Giannina Gaslini Institute 16147 Genoa Italy
Radboud University Medical Center 6525 GA Nijmegen The Netherlands
Service de pédiatrie CHU de Nantes 44000 Nantes France
U O C Genetica Medica IRCCS Istituto Giannina Gaslini 16147 Genoa Italy
References provided by Crossref.org
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- $a Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in dynein axonemal chains, as well as cytoplasmic light and intermediate chains, have been linked with ciliary dyskinesia and skeletal dysplasia. The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons. Dominant pathogenic variants in DYNC1H1 have been previously implicated in peripheral neuromuscular disorders (NMD) and neurodevelopmental disorders (NDD). As heavy-chain dynein is ubiquitously expressed, the apparent selectivity of heavy chain dyneinopathy for motor neuronal phenotypes remains currently unaccounted for. Here, we aimed to evaluate the full DYNC1H1-related clinical, molecular and imaging spectrum, including multisystem features and novel phenotypes presenting throughout life. We identified 47 cases from 43 families with pathogenic heterozygous variants in DYNC1H1 (aged 0-59 years) and collected phenotypic data via a comprehensive standardized survey and clinical follow-up appointments. Most patients presented with divergent and previously unrecognized neurological and multisystem features, leading to significant delays in genetic testing and establishing the correct diagnosis. Neurological phenotypes include novel autonomic features, previously rarely described behavioral disorders, movement disorders and periventricular lesions. Sensory neuropathy was identified in nine patients (median age of onset 10.6 years), of which five were only diagnosed after the second decade of life, and three had a progressive age-dependent sensory neuropathy. Novel multisystem features included primary immunodeficiency, bilateral sensorineural hearing loss, organ anomalies and skeletal manifestations, resembling the phenotypic spectrum of other dyneinopathies. We also identified an age-dependent biphasic disease course with developmental regression in the first decade and, following a period of stability, neurodegenerative progression after the second decade of life. Of note, we observed several cases in whom neurodegeneration appeared to be prompted by intercurrent systemic infections with double-stranded DNA viruses (Herpesviridae) or single-stranded RNA viruses (Ross River fever, SARS-CoV-2). Moreover, the disease course appeared to be exacerbated by viral infections regardless of age and/or severity of neurodevelopmental disorder manifestations, indicating a role of dynein in anti-viral immunity and neuronal health. In summary, our findings expand the clinical, imaging and molecular spectrum of pathogenic DYNC1H1 variants beyond motor neuropathy disorders and suggest a life-long continuum and age-related progression due to deficient intracellular trafficking. This study will facilitate early diagnosis and improve counselling and health surveillance of affected patients.
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