ArticleJournal of human genetics2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 71 citations in OpenAlex.
- Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.Clinical genetics · 2026Review
- Structure Makes a Difference: IFT Complex in Ciliary Function and Ciliopathy.Cytoskeleton (Hoboken, N.J.) · 2026Review
- A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.CEN case reports · 2026Article
- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
- Haploinsufficiency of intraflagellar transport protein 172 causes autism-like behavioral phenotypes in mice through BDNF.Journal of advanced research · 2025Article
- Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome.Human molecular genetics · 2025Article
- Genetic Landscape of Obesity in Children: Research Advances and Prospects.Journal of obesity · 2025Review
- Intraflagellar transport: A critical player in photoreceptor development and the pathogenesis of retinal degenerative diseases.Cytoskeleton (Hoboken, N.J.) · 2024Review
- Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.BMC medical genomics · 2023Article
- Genetics and epigenetics in the obesity phenotyping scenario.Reviews in endocrine & metabolic disorders · 2023Review
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.PloS one · 2023Article
- Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.Frontiers in cell and developmental biology · 2023Article
- Primary cilia-associated protein IFT172 in ciliopathies.Frontiers in cell and developmental biology · 2023Review
- CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export.Molecular biology of the cell · 2022Article
- Novel homozygous nonsense mutation associated with Bardet-Biedl syndrome in fetuses with congenital renal malformation.Medicine · 2022Article
- Molecular basis underlying the ciliary defects caused byMolecular biology of the cell · 2022Article
- IdenticalFrontiers in genetics · 2022Article
- Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.International journal of molecular sciences · 2021Article
- Obesity Genomics and Metabolomics: a Nexus of Cardiometabolic Risk.Current cardiology reports · 2020Review
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bardet-Biedl syndrome (BBS; MIM 209900) is a recessive heterogeneous ciliopathy characterized by retinitis pigmentosa (RP), postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. So far, 20 BBS genes have been identified, with the last reported ones being found in one or very few families. Whole-exome sequencing was performed in a consanguineous family in which two affected children presented typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism and cognitive impairment) without any mutation identified in known BBS genes at the time of the study. We identified a homozygous splice-site mutation (NM_015662.2: c.4428+3A>G) in both affected siblings in the last reported BBS gene, namely, Intraflagellar Transport 172 Homolog (IFT172). Familial mutation segregation was consistent with autosomal recessive inheritance. IFT172 mutations were initially reported in Jeune and Mainzer-Saldino syndromes. Recently, mutations have also been found in isolated RP and Bardet-Biedl-like ciliopathy. This is the second report of IFT172 mutations in BBS patients validating IFT172 as the twentieth BBS gene (BBS20). Moreover, another IFT gene, IFT27, was already associated with BBS, confirming the implication of IFT genes in the pathogenesis of BBS.
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