Trial reportThe Journal of pediatrics2009
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
Trial report in The Journal of pediatrics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 37 citations in OpenAlex.
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Healthcare recommendations for Joubert syndrome.American journal of medical genetics. Part A · 2020Review
- The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.Translational science of rare diseases · 2019Article
- Clinical characteristics of individual organ system disease in non-motile ciliopathies.Translational science of rare diseases · 2019Article
- Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.European journal of human genetics : EJHG · 2018Article
- Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.Molecular genetics and metabolism · 2018Article
- Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.Journal of the American Society of Nephrology : JASN · 2017Article
- Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease.Orphanet journal of rare diseases · 2015Review
- Mutation of POC1B in a severe syndromic retinal ciliopathy.Human mutation · 2014Article
- Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.Investigative ophthalmology & visual science · 2012Article
- Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Orphanet journal of rare diseases · 2012Article
- Spectrum of clinical diseases caused by disorders of primary cilia.Proceedings of the American Thoracic Society · 2011Review
- Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.Journal of the American Society of Nephrology : JASN · 2010Article
- Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.Clinical journal of the American Society of Nephrology : CJASN · 2010Article
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.Human mutation · 2010Article
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).Journal of medical genetics · 2010Article
- Clinical and molecular features of Joubert syndrome and related disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2009Review
- Liver and kidney disease in ciliopathies.American journal of medical genetics. Part C, Seminars in medical genetics · 2009Review
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 1 country.
Funding
Abstract
objectivesTo describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS). STUDY
designBiochemical evaluations, magnetic resonance and ultrasound imaging, electroretinograms, IQ testing, and sequence analysis of the PKHD1 and MKS3 genes were performed. Functional consequences of the MKS3 mutations were evaluated by cDNA sequencing and transfection studies with constructs of meckelin, the protein product of MKS3.
resultsThese 3 children with MKS3 mutations had features typical of ARPKD, that is, enlarged, diffusely microcystic kidneys and early-onset severe hypertension. They also exhibited early-onset chronic anemia, a feature of nephronophthisis, and speech and oculomotor apraxia, suggestive of JS. Magnetic resonance imaging of the brain, originally interpreted as normal, revealed midbrain and cerebellar abnormalities in the spectrum of the "molar tooth sign" that characterizes JS.
conclusionsThese findings expand the phenotypes associated with MKS3 mutations. MKS3-related ciliopathies should be considered in patients with an ARPKD-like phenotype, especially in the presence of speech and oculomotor apraxia. In such patients, careful expert evaluation of the brain images can be beneficial because the brain malformations can be subtle.
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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.