ArticleJournal of human genetics2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 33 citations in OpenAlex.
- TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development.PLoS biology · 2026Article
- Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA.HGG advances · 2026Article
- Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.International journal of molecular sciences · 2026Review
- Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.Pediatric research · 2026Article
- Cardioacrofacial dysplasia 1: a case report and literature review.Translational pediatrics · 2026Article
- Case Report: Short rib-thoracic dysplasia type 3 presenting with predominant respiratory manifestations.Frontiers in pediatrics · 2026Article
- Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.Human mutation · 2026Article
- Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.European journal of human genetics : EJHG · 2025Article
- Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.Clinical genetics · 2025Article
- Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2.bioRxiv : the preprint server for biology · 2025Article
- Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.European journal of human genetics : EJHG · 2025Article
- Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.Human molecular genetics · 2025Article
- Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.Human genome variation · 2024Article
- Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report.CEN case reports · 2024Article
- Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.Journal of medical genetics · 2023Article
- Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.Human molecular genetics · 2023Article
- Article
- Primary cilia support cartilage regeneration after injury.International journal of oral science · 2023Article
- IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.PLoS genetics · 2023Article
- New insights into the roles for DYRK family in mammalian development and congenital diseases.Genes & diseases · 2023Review
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Authors and funding
33 authors at 14 institutions in 10 countries.
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Abstract
Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
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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.