ArticleAmerican journal of medical genetics. Part A2009
Expanding CEP290 mutational spectrum in ciliopathies.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00305305 (Disorders of Cerebral Development), which is not on this map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Disorders of Cerebral Development: A Phenotypic and Genetic Analysis
Who cites it
15 citing papers in PubMed, 43 citations in OpenAlex.
- Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCAVeterinary ophthalmology · 2023Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing.Molecular genetics & genomic medicine · 2022Article
- Case Report: Identification of likely recurrentF1000Research · 2022Article
- Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.Human genomics · 2020Article
- Novel insights into the genetic landscape of congenital heart disease with systems genetics.Progress in pediatric cardiology · 2019Article
- The ciliopathy gene product Cep290 is required for primary cilium formation and microtubule network organization.Turkish journal of biology = Turk biyoloji dergisi · 2018Article
- A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.Human molecular genetics · 2017Article
- Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.European journal of human genetics : EJHG · 2013Article
- Joubert syndrome: congenital cerebellar ataxia with the molar tooth.The Lancet. Neurology · 2013Review
- Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.Vision research · 2012Article
- Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Cilia · 2012Article
- FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.Neurogenetics · 2011Article
- Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.Human mutation · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
168 authors at 6 institutions in 3 countries.
Funding
Abstract
Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To assess whether genomic rearrangements involving the CEP290 gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290 heterozygous patients, including five JSRD/MKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290 C-terminus that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290 genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified.
Indexed as
Identifiers
What OpenQuestion holds
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.