ArticleAmerican journal of medical genetics. Part A2011
Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 40 citations in OpenAlex.
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
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- Prenatal diagnosis of Bardet Biedl Syndrome: A case report.Radiology case reports · 2023Article
- Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.Journal of multidisciplinary healthcare · 2022Review
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- Review
- Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.Molecular genetics & genomic medicine · 2021Article
- Ciliopathies: Coloring outside of the lines.American journal of medical genetics. Part A · 2021Article
- Monoallelic Mutations inCirculation. Genomic and precision medicine · 2020Article
- Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.BMC pediatrics · 2020Review
- Primary cilia deficiency in neural crest cells models anterior segment dysgenesis in mouse.eLife · 2019Article
- Therapeutic perspectives for structural and functional abnormalities of cilia.Cellular and molecular life sciences : CMLS · 2019Review
- Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.Frontiers in genetics · 2019Review
- Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.PloS one · 2018Article
- Photoreceptor Cilia and Retinal Ciliopathies.Cold Spring Harbor perspectives in biology · 2017Review
- Characterizing the morbid genome of ciliopathies.Genome biology · 2016Article
- Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.The Journal of clinical endocrinology and metabolism · 2015Article
- Dido mutations trigger perinatal death and generate brain abnormalities and behavioral alterations in surviving adult mice.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Disorders within the "ciliopathy" spectrum include Joubert (JS), Bardet-Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single family. We report on two consanguineous families with discordant ciliopathies in sibling. In Ciliopathy-672, the older child displayed dialysis-dependent NPHP whereas the younger displayed the pathognomonic molar tooth MRI sign (MTS) of JS. A second branch displayed two additional children with NPHP. In Ciliopathy-1491, the oldest child displayed classical features of BBS whereas the two younger children displayed the MTS. Importantly, the children with BBS and NPHP lacked MTS, whereas children with JS lacked obesity or NPHP, and the child with BBS lacked MTS and NPHP. Features common to all three disorders included intellectual disability, postaxial polydactyly, and visual reduction. The variable phenotypic expressivity in this family suggests that genetic modifiers may determine specific clinical features within the ciliopathy spectrum.
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Registered trials
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.