ArticleScientific reports2021
Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- mTOR signalling mediates the spinal osteoblast pathotype at the curve apex in adolescent idiopathic scoliosis.Scientific reports · 2026Article
- Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum.Human genomics · 2026Article
- The role of genetics and molecular mechanisms in early onset scoliosis.Journal of clinical orthopaedics and trauma · 2026Review
- Integrating intrinsic musculoskeletal pathology and genetics: Recent advances in unravelling the causative factors of adolescent idiopathic scoliosis.Bone reports · 2025Review
- Mechanistic insights into TTLL11 polyglutamylase-mediated primary tubulin chain elongation.Science advances · 2025Article
- Genetics and pathogenesis of scoliosis.North American Spine Society journal · 2024Article
- Carboxy-terminal polyglutamylation regulates signaling and phase separation of the Dishevelled protein.The EMBO journal · 2024Article
- Review
- NEKL-4 regulates microtubule stability and mitochondrial health in ciliated neurons.The Journal of cell biology · 2024Article
- NEKL-4 regulates microtubule stability and mitochondrial health inbioRxiv : the preprint server for biology · 2024Article
- Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.The Journal of clinical investigation · 2024Article
- TTLL12 is required for primary ciliary axoneme formation in polarized epithelial cells.EMBO reports · 2024Article
- Article
- Article
- Advances in genetic factors of adolescent idiopathic scoliosis: a bibliometric analysis.Frontiers in pediatrics · 2023Review
- Zebrafish: an important model for understanding scoliosis.Cellular and molecular life sciences : CMLS · 2022Review
- Genetic animal modeling for idiopathic scoliosis research: history and considerations.Spine deformity · 2022Review
- The axonemal dynein heavy chain 10 gene is essential for monocilia motility and spine alignment in zebrafish.Developmental biology · 2022Article
- Validation of Candidate Sleep Disorder Risk Genes Using Zebrafish.Frontiers in molecular neuroscience · 2022Review
- Prevalence ofGenes · 2021Article
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic scoliosis (IS) is a complex 3D deformation of the spine with a strong genetic component, most commonly found in adolescent girls. Adolescent idiopathic scoliosis (AIS) affects around 3% of the general population. In a 5-generation UK family, linkage analysis identified the locus 9q31.2-q34.2 as a candidate region for AIS; however, the causative gene remained unidentified. Here, using exome sequencing we identified a rare insertion c.1569_1570insTT in the tubulin tyrosine ligase like gene, member 11 (TTLL11) within that locus, as the IS causative gene in this British family. Two other TTLL11 mutations were also identified in two additional AIS cases in the same cohort. Analyses of primary cells of individuals carrying the c.1569_1570insTT (NM_194252) mutation reveal a defect at the primary cilia level, which is less present, smaller and less polyglutamylated compared to control. Further, in a zebrafish, the knock down of ttll11, and the mutated ttll11 confirmed its role in spine development and ciliary function in the fish retina. These findings provide evidence that mutations in TTLL11, a ciliary gene, contribute to the pathogenesis of IS.
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