ArticleEuropean journal of human genetics : EJHG2016
Joubert syndrome: genotyping a Northern European patient cohort.
Article in European journal of human genetics : EJHG, 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, 77 citations in OpenAlex.
- Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.Journal of pediatric gastroenterology and nutrition · 2018Trial
- Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.Renal failure · 2025Article
- Molecular treatment options for patients carryingMolecular therapy. Nucleic acids · 2025Article
- A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.Neurogenetics · 2025Article
- Investigating the Role ofGenes · 2025Review
- New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.Reports (MDPI) · 2025Article
- Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant inAmerican journal of ophthalmology case reports · 2024Article
- Changes in ADAR RNA editing patterns in CMV and ZIKV congenital infections.BMC genomics · 2023Article
- Novel variants identified in five Chinese families with Joubert Syndrome: a case report.BMC medical genomics · 2023Article
- Review
- Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration.Journal of pediatric genetics · 2023Article
- Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.Molecular genetics & genomic medicine · 2022Article
- A novel non-sense variant in the OFD1 gene caused Joubert syndrome.Frontiers in genetics · 2022Article
- Case Report: Identification of likely recurrentF1000Research · 2022Article
- Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.NPJ genomic medicine · 2021Article
- Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.Molecular genetics & genomic medicine · 2021Article
- Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.Molecular biology reports · 2021Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We developed a targeted next-generation sequencing (NGS) approach for parallel sequencing of 22 known JBS genes plus 599 additional ciliary genes. This method was used to genotype a cohort of 51 well-phenotyped Northern European JBS cases (in some of the cases, Sanger sequencing of individual JBS genes had been performed previously). Altogether, 21 of the 51 cases (41%) harbored biallelic pathogenic mutations in known JBS genes, including 14 mutations not previously described. Mutations in C5orf42 (12%), TMEM67 (10%), and AHI1 (8%) were the most prevalent. C5orf42 mutations result in a purely neurological Joubert phenotype, in one case associated with postaxial polydactyly. Our study represents a population-based cohort of JBS patients not enriched for consanguinity, providing insight into the relative importance of the different JBS genes in a Northern European population. Mutations in C5orf42 are relatively frequent (possibly due to a Dutch founder mutation) and mutations in CEP290 are underrepresented compared with international cohorts. Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.