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10 results for “Joubert syndrome”
Data from: Age and sex prevalence estimate of Joubert Syndrome in Italy
Objective: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology, and to provide a molecular characterization of the described patients cohort. Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS and resident 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. Results: We identified 284 JS patients: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% 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 considering 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 out 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 (r2=0.91; p<0.001). Conclusions: We estimated for the first time the age and sex prevalence of JS in Italy, and investigated their genetic profile. The obtained population-based prevalence rate was approximately 10 times higher than that available in literature for children population.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis_dataset
<p>This dataset shows the clinical and neuroradiological data of the six patients included in the study. Patients clinically have a Joubert-like phenotype, but the genetic analysis disclosed for all of them the causative mutation in genes not associated with Joubert syndrome. For this reason, the patient's MRI and clinic were re-evaluated and the correct diagnosis was reassessed.</p> <p>Here, the following clinical, neuroradiological and genetic data which were taken into account in this study are listed. CLINICAL FINDINGS: Gender, age at examination, phenotype at onset, language, intellectual disability, ataxia, behavioral defects, dysmorphisms, epilepsy. NEUROIMAGING FINDINGS: cerebellar vermis, cerebellar hemispheres, SCPs. GENETIC FINDINGS: gene, variants.</p> <p>While the analysis of JS-related genes was negative, whole exome sequencing (WES) disclosed pathogenic variants in other genes causative of distinct brain malformative conditions with partial clinical and neuroradiological overlap with JS. Reassessment of brain MRIs from five patients by a panel of expert pediatric neuroradiologists blinded to the genetic diagnosis excluded the MTS in all cases but one, which raised conflicting interpretations. </p> <p>This study highlights that the diagnostic yield of NGS-based targeted panels is strictly related to the accuracy of the diagnostic referral based on clinical and imaging assessment, and that WES has an advantage over targeted panel analysis when the diagnostic suspicion is not straightforward.</p>
Recurrent, founder and hypomorphic variants contribute to shaping the genetic landscape of Joubert syndrome
<p><strong>Introduction: </strong>This database includes the raw data linked with the paper “Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome”. In this paper we reported eleven recurrent variants in seven distinct JS genes occurring in our large European JS cohort, including a previously unreported variant in KIAA0586 (c.1006C>T).</p> <p><strong>Methods</strong>: We evaluated the frequencies of these variants in our cohort of >500 European JS patients and compared them with controls (from three large Italian non-JS cohorts and from the gnomAD database), and with an independent cohort of about 600 JS probands from the United States.</p> <p><strong>Results: </strong>All variants were markedly enriched in the European JS cohort compared to all controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazi Jewish founder variant (TMEM216 c.218G>T) was significantly enriched in American JS compared to European JS patients, while the MKS1 c.1476T>G variant was about ten times more frequent among European JS. Frequencies of all remaining variants were comparable in the two cohorts. Genotyping of several microsatellite markers across the gene loci in carriers of seven variants identified four novel founder haplotypes. Of note, MKS1 c.1476T>G was consistently detected in compound heterozygosity with deleterious variants in JS patients, while it was found in homozygosity in an unaffected parent. Functional studies on fibroblasts from this healthy carrier and her affected son showed a similarly reduced percentage of ciliated cells compared to unaffected controls, but much shorter cilia in the patient than in the unaffected homozygous parent, consistent with a hypomorphic effect.</p>
Data from: Age and sex prevalence estimate of Joubert Syndrome in Italy
Open the record for dataset details and reuse information.
Dataset supporting publication entitled: KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
<p>Supporting dataset for a publication in Genome Biology, entitled</p> <p>"KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome" .</p> <p> </p>
Joubert Syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
GEO Series GSE254556. Homo sapiens. 36 samples. Type: Expression profiling by high throughput sequencing.
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
ClinicalTrials.gov study NCT00873678. IPD Sharing: Not stated. Countries: 1. Publications: 0.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
<p>Joubert syndrome (JS) is a recessively inherited ciliopathy characterized by congenital ocular motor apraxia (COMA), developmental delay, intellectual disability, ataxia, multiorgan involvement and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known, with diagnostic yield of 60-75%.</p> <p>In 2018, we reported homozygous hypomorphic missense variants of the SUFU gene in two families with mild JS. Recently, heterozygous truncating SUFU variants were identified in families with dominantly inherited COMA, occasionally associated with mild DD and subtle cerebellar anomalies.</p> <p>We reanalyzed NGS data in two cohorts comprising 1097 probands referred for genetic testing of JS genes. Heterozygous truncating and splice-site SUFU variants were detected in 22 patients from 17 families (1.5%) with strong male prevalence (86%), and in eight asymptomatic parents. The majority of affected children presented with the same constellation of neurological features seen at the mildest end of the JS spectrum, characterized by early onset hypotonia persisting in infancy, COMA, mild motor and speech delay and mild truncal and limb ataxia.</p> <p>Ataxia occurred in over 60% of the patients, while only about one third eventually manifested intellectual disability. Abnormal neonatal breathing was reported only in a minority of patients. Of note, macrocephaly was present in 19 out of 22 children, while extra-neurological involvement was extremely rare. Attention-Deficit/Hyperactivity Disorder, autism traits, obsessive-compulsive disrdr and other behavioral defects were reported in a minority of patient.</p>
Visual function in children with Joubert Syndrome
<p>Introduction</p> <p>This database includes the raw data linked with the paper “ Visual function in children with Joubert Syndrome ” accepted for publication on “Developmental Medicine and Child Neurology”. In this paper, we aimed to a) describe visual function in children with Joubert syndrome (JS) b) investigate its possible association between with diagnostic and developmental aspects. The spreadsheet includes data on medical history and clinical characteristics of the 59 included subjects (columns A-AB), neuroradiological and genetic data (columns AC-AE), visual functions and neuro-ophthalmological data (columns AF-BN), behavioural and cognitive data (columns BO-BQ). The encoding of data is presented in the second sheet.</p> <p>Methods</p> <p>This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, range 4 months to 23 years) diagnosed with JS from January 2002 to December 2020. Data about clinical and diagnostic evaluations were collected in a data set during a review of medical records.</p> <p>Results (in brief)</p> <p>Ocular motor apraxia was highly represented in our cohort (75%), with a high prevalence of refractive defects and retinal abnormalities. Developmental delay/intellectual disability was frequent (in 69.5% of the sample), associated with retinal dystrophy (p = 0.047) and reduced visual acuity both for near (p = 0.014) and for far distances (p = 0.017). Based on our results, we encourage early and multidisciplinary assessment and follow-up of visual function in children with Joubert syndrome. This would help in planning a personalized rehabilitation to sustain functional vision.</p>
New insights into the neuropsychological profile and Intellectual Quotient variability in Joubert Syndrome compared to other congenital cerebellar malformations
<p>Data including IQ, Age and NEPSY-II aggregated indexes. </p>
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