ArticleScientific reports2016
Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.
Article in Scientific reports, 2016. 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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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.Journal of human genetics · 2018Trial
- The expanding clinical and genetic spectrum of DYNC1H1-related disorders.Brain : a journal of neurology · 2025Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- The regulatory function of the AAA4 ATPase domain of cytoplasmic dynein.Nature communications · 2020Article
- The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.Journal of human genetics · 2020Article
- Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- The Genetic Control of Stoichiometry Underlying Autism.Annual review of neuroscience · 2020Article
- Molecular mechanism of cytoplasmic dynein tension sensing.Nature communications · 2019Article
- Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology.Journal of cell science · 2018Article
- Combining Structure-Function and Single-Molecule Studies on Cytoplasmic Dynein.Methods in molecular biology (Clifton, N.J.) · 2018Article
- Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.Scientific reports · 2017Article
- A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.Scientific reports · 2017Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
De novo mutations that contribute to rare Mendelian diseases, including neurological disorders, have been recently identified. Whole-exome sequencing (WES) has become a powerful tool for the identification of inherited and de novo mutations in Mendelian diseases. Two important guidelines were recently published regarding the investigation of causality of sequence variant in human disease and the interpretation of novel variants identified in human genome sequences. In this study, a family with supposed movement disorders was sequenced via WES (including the proband and her unaffected parents), and a standard investigation and interpretation of the identified variants was performed according to the published guidelines. We identified a novel de novo mutation (c.2327C > T, p.P776L) in DYNC1H1 gene and confirmed that it was the causal variant. The phenotype of the affected twins included delayed motor milestones, pes cavus, lower limb weakness and atrophy, and a waddling gait. Electromyographic (EMG) recordings revealed typical signs of chronic denervation. Our study demonstrates the power of WES to discover the de novo mutations associated with a neurological disease on the whole exome scale, and guidelines to conduct WES studies and interpret of identified variants are a preferable option for the exploration of the pathogenesis of rare neurological disorders.
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