ArticleJournal of medical genetics2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Article in Journal of medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 140 citations in OpenAlex.
- Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.Communications biology · 2026Article
- The roles of cytoplasmic dynein complex in various ocular disorders.Molecular medicine (Cambridge, Mass.) · 2026Review
- Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.Pediatric research · 2026Article
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts.Journal of biomedical science · 2025Article
- A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.Hereditas · 2025Article
- Intraflagellar transport: A critical player in photoreceptor development and the pathogenesis of retinal degenerative diseases.Cytoskeleton (Hoboken, N.J.) · 2024Review
- Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.European journal of human genetics : EJHG · 2024Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Emerging principles of primary cilia dynamics in controlling tissue organization and function.The EMBO journal · 2023Review
- Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.European journal of human genetics : EJHG · 2023Article
- Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.BMC medical genomics · 2023Article
- Genetic variations in theFrontiers in genetics · 2023Article
- Characterization of a novel deep-intronic variant inCold Spring Harbor molecular case studies · 2022Article
- A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report.Clinical case reports · 2022Article
- Germline genetic biomarkers to stratify patients for personalized radiation treatment.Journal of translational medicine · 2022Article
- Article
- Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.Human molecular genetics · 2022Article
- Fetal ciliopathies: a retrospective observational single-center study.Archives of gynecology and obstetrics · 2022Observational
- Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.BMC medical genomics · 2022Article
18 more citing papers are in PubMed but not listed here.
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Authors and funding
35 authors at 16 institutions in 6 countries.
Funding
Abstract
backgroundJeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis. AIMS AND
methodsTo determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing. RESULTS AND
conclusionsWe detected 34 DYNC2H1 mutations in 29/71 (41%) patients from 19/57 families (33%), showing it as a major cause of JATD especially in Northern European patients. This included 13 early protein termination mutations (nonsense/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. In addition, 21 missense mutations were distributed across DYNC2H1 and these showed some clustering to functional domains, especially the ATP motor domain. DYNC2H1 patients largely lacked significant extra-skeletal involvement, demonstrating an important genotype-phenotype correlation in JATD. Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors. Assessment of fibroblasts from patients showed accumulation of anterograde IFT proteins in the ciliary tips, confirming defects similar to patients with other retrograde IFT machinery mutations, which may be of undervalued potential for diagnostic purposes.
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