ArticleHuman mutation2018
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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Who cites it
75 citing papers in PubMed.
- Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing.BioMed research international · 2019Trial
- Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.Clinical genetics · 2026Article
- Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.Communications biology · 2026Article
- Prenatal Diagnosis of Short Rib-Polydactyly Syndrome (SRPS),Clinical case reports · 2026Article
- Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.Human mutation · 2026Article
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Identification of EVC variants and the preimplantation genetic testing in a Chinese family.Frontiers in medicine · 2026Article
- Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.Clinical genetics · 2025Article
- A Family ofMolecular syndromology · 2025Article
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.Nature communications · 2025Article
- Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Sprouty2/4 deficiency disrupts early signaling centers impacting chondrogenesis in the mouse forelimb.JBMR plus · 2025Article
- Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.Frontiers in pediatrics · 2025Article
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.European journal of human genetics : EJHG · 2024Article
- Molecular and structural perspectives on protein trafficking to the primary cilium membrane.Biochemical Society transactions · 2024Review
- The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP.Development (Cambridge, England) · 2024Article
- The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development.Journal of anatomy · 2024Article
- Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.BMC medical genomics · 2023Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors.
Funding
Abstract
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (CED) phenotypes. To identify new genes and define the spectrum of mutations in the skeletal ciliopathies, we analyzed 152 unrelated families with SRPS, ATD, and EVC. Causal variants were discovered in 14 genes in 120 families, including one newly associated gene and two genes previously associated with other ciliopathies. These three genes encode components of three different ciliary complexes; FUZ, which encodes a planar cell polarity complex molecule; TRAF3IP1, which encodes an anterograde ciliary transport protein; and LBR, which encodes a nuclear membrane protein with sterol reductase activity. The results established the molecular basis of SRPS type IV, in which mutations were identified in four different ciliary genes. The data provide systematic insight regarding the genotypes associated with a large cohort of these genetically heterogeneous phenotypes and identified new ciliary components required for normal skeletal development.
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