ArticleJournal of medical genetics2006
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 130 citations in OpenAlex.
- A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.Human molecular genetics · 2010Pooled it
- Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.Human genomics · 2026Article
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Genetic etiology of autism spectrum disorder in the African population: a scoping review.Frontiers in genetics · 2024Article
- Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration.Journal of pediatric genetics · 2023Article
- 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
- Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.Molecular biology reports · 2021Review
- Joubert syndrome diagnosed renally late.Clinical kidney journal · 2021Article
- Aquatic models of human ciliary diseases.Genesis (New York, N.Y. : 2000) · 2021Review
- Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.BMC medical genetics · 2020Article
- Whole-genome resequencing analysis of Pengxian Yellow Chicken to identify genome-wide SNPs and signatures of selection.3 Biotech · 2019Article
- The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.Translational science of rare diseases · 2019Article
- Review
- WD40 Repeat Proteins: Signalling Scaffold with Diverse Functions.The protein journal · 2018Review
- Missense mutations in the WD40 domain ofJournal of medical genetics · 2017Article
- Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.Medical science monitor : international medical journal of experimental and clinical research · 2017Article
- Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.BMJ case reports · 2016Article
- Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.BMC medical genetics · 2016Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundJoubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1).
methodsWe screened a cohort of 117 JS subjects for AHI1 mutations by a combination of haplotype analysis and sequencing of the gene, and for the homozygous NPHP1 deletion by sequencing and marker analysis.
resultsWe identified a total of 15 novel AHI1 mutations in 13 families, including nonsense, missense, splice site, and insertion mutations, with some clustering in the WD40 domains. Eight families were consanguineous, but no single founder mutation was apparent. In addition to the MTS, retinal dystrophy was present in 11 of 12 informative families; however, no subjects exhibited variable features of JS such as polydactyly, encephalocele, colobomas, or liver fibrosis. In contrast to previous reports, we identified two families with affected siblings who developed renal disease consistent with nephronophthisis (NPH) in their 20s. In addition, two individuals with classic NPH were found to have homozygous NPHP1 deletions.
conclusionsOverall, 11% of subjects had AHI1 mutations, while approximately 2% had the NPHP1 deletion, representing a total of less than 15% in a large JS cohort. Some preliminary genotype-phenotype correlations are possible, notably the association of renal impairment, specifically NPH, in those with NPHP1 deletions. Subjects with AHI1 mutations may be at risk of developing both retinal dystrophy and progressive kidney disease.
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