ArticleNeurology2020
Age and sex prevalence estimate of Joubert syndrome in Italy.
Abstract readMulticenter Study
In one paragraph
Article in Neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27citing papers in PubMed
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27 citing papers in PubMed.
- Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.Human genomics · 2026Article
- Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome.International journal of molecular sciences · 2025Review
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- A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.Neurogenetics · 2025Article
- Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.Journal of neural transmission (Vienna, Austria : 1996) · 2025Article
- Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.Journal of cellular and molecular medicine · 2025Article
- A Novel Pathogenic Splicing Mutation ofPharmacogenomics and personalized medicine · 2025Article
- Does third molar agenesis influence the second lower molar mineralization?International journal of legal medicine · 2024Article
- New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.Cerebellum (London, England) · 2024Article
- A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.BMC pediatrics · 2023Article
- Novel variants identified in five Chinese families with Joubert Syndrome: a case report.BMC medical genomics · 2023Article
- Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.Journal of medical genetics · 2023Article
- Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.Global medical genetics · 2023Article
- Article
- 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
- Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- A 10-year-old girl with Joubert syndrome and chronic kidney disease and its related complications.Quantitative imaging in medicine and surgery · 2021Article
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Authors and funding
15 authors.
Sara NuovoFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.ORCID 0000-0003-1359-5122
Ilaria BacigalupoFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Monia GinevrinoFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Roberta BattiniFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Enrico BertiniFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Renato BorgattiFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Antonella CasellaFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Alessia MicalizziFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Marta NardellaFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Romina RomanielloFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Valentina SerpieriFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Ginevra ZanniFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Enza Maria ValenteFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. enzamaria.valente@unipv.it nicola.vanacore@iss.it.
Nicola VanacoreFrom the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. enzamaria.valente@unipv.it nicola.vanacore@iss.it.
JS Italian Study Group
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.
methodsWe enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available.
resultsWe identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41-0.53), 0.41 (95% CI 0.32-0.49), and 0.53 (95% CI 0.45-0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49-1.97), 1.62 (95% CI 1.31-1.99), and 1.80 (95% CI 1.49-2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 ± 8.10 years, and showed a statistically significant linear relationship with chronological age (
conclusionsWe estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients' genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population.
Indexed as
Abnormalities, MultipleAdolescentAdultAge FactorsAge of OnsetCerebellumChildChild, PreschoolDatabases, GeneticEye AbnormalitiesFemaleHigh-Throughput Nucleotide SequencingHumansInfantItalyKidney Diseases, Cystic
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