ArticleAmerican journal of human genetics2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
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- Left-right cortical interactions drive intracellular pattern formation in the ciliate Tetrahymena.PLoS genetics · 2025Article
- A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.Neurogenetics · 2025Article
- Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Genome research · 2025Article
- Axonemal microtubule dynamics in the assembly and disassembly of cilia.Biochemical Society transactions · 2025Review
- Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.Journal of human genetics · 2025Article
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Spinal scoliosis: insights into developmental mechanisms and animal models.Spine deformity · 2025Review
- Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Genes · 2024Article
- Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.The Journal of clinical investigation · 2024Article
- XIAP-mediated degradation of IFT88 disrupts HSC cilia to stimulate HSC activation and liver fibrosis.EMBO reports · 2024Article
- The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.Orphanet journal of rare diseases · 2023Observational
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- Article
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022Review
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.JBMR plus · 2022Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
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Authors and funding
25 authors at 8 institutions in 6 countries.
Funding
Abstract
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown. All of the gene products localize in and around the primary cilium, making JS a canonical ciliopathy. Ciliopathies are unified by their overlapping clinical features and underlying mechanisms involving ciliary dysfunction. In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (stop-gain, missense, splice-site, and single-exon deletion) in 11 individuals with JS from 8 families, accounting for approximately 1% of the disorder. The associated phenotypes range from isolated neurological involvement to JS with retinal dystrophy, additional brain abnormalities (e.g., heterotopia, Dandy-Walker malformation), pituitary insufficiency, and/or synpolydactyly. We show that ARMC9 localizes to the basal body of the cilium and is upregulated during ciliogenesis. Typical ciliopathy phenotypes (curved body shape, retinal dystrophy, coloboma, and decreased cilia) in a CRISPR/Cas9-engineered zebrafish mutant model provide additional support for ARMC9 as a ciliopathy-associated gene. Identifying ARMC9 mutations as a cause of JS takes us one step closer to a full genetic understanding of this important disorder and enables future functional work to define the central biological mechanisms underlying JS and other ciliopathies.
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