ArticlePediatric neurology2015
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.
Article in Pediatric neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders.Molecular genetics & genomic medicine · 2025Review
- Neuroaxonal Degeneration as a Converging Mechanism in Motor Neuron Diseases (MNDs): Molecular Insights into RNA Dysregulation and Emerging Therapeutic Targets.International journal of molecular sciences · 2025Review
- The expanding clinical and genetic spectrum of DYNC1H1-related disorders.Brain : a journal of neurology · 2025Article
- Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis.Journal of pediatric genetics · 2022Article
- De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.Molecular genetics & genomic medicine · 2022Article
- Missense mutation inWorld journal of clinical cases · 2021Article
- The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.Journal of human genetics · 2020Article
- Screening of known disease genes in congenital scoliosis.Molecular genetics & genomic medicine · 2018Article
- Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology.Journal of cell science · 2018Article
- Dynein/dynactin is necessary for anterograde transport ofProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.Orphanet journal of rare diseases · 2016Article
- Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.Journal of human genetics · 2016Article
- Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.Scientific reports · 2016Article
- A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.Neurology. Genetics · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundMolecular diagnosis of the distal spinal muscular atrophies or distal hereditary motor neuropathies remains challenging because of clinical and genetic heterogeneity. Next generation sequencing offers potential for identifying de novo mutations of causative genes in isolated cases. PATIENT DESCRIPTION: We present a 3.6-year-old girl with congenital scoliosis, equinovarus, and L5/S1 left hemivertebra who demonstrated delayed walking and lower extremities atrophy. She was negative for SMN1 deletion testing, and parents show no sign of disease.
resultsWhole exome sequencing of the affected girl showed a novel de novo heterozygous missense mutation c.1792C>T (p.Arg598Cys) in the tail domain of the DYNC1H1 gene encoding for cytoplasmic dynein heavy chain 1. The mutation changed a highly conserved amino acid and was absent from both parents.
conclusionDe novo mutations of DYNC1H1 have been found in individuals with autosomal dominant mental retardation with neuronal migration defects. Dominantly inherited mutations of DYNC1H1 have been reported to cause spinal muscular atrophy with predominance of lower extremity involvement and Charcot-Marie-Tooth type 2O. This is the first report of a de novoDYNC1H1 mutation associated with the spinal muscular atrophy with predominance of lower extremity phenotype with a spinal deformity (lumbar hemivertebrae). This case also demonstrates the power of next generation sequencing to discover de novo mutations on a genome-wide scale.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.