Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing

Conclusion: This study demonstrates the effectiveness of NGS in significantly reducing the cost and time for simultaneous sequence analysis of PKD1 and PKD2, simplifying the genetic diagnostics of ADPKD. Although a probable correlation between the mutation types and phenotypic outcome is possible, however for more extensive studies in future, the consideration of renal hypouricemia (RHUC) and PKD1 coexistence may be helpful. The novel frameshift mutations reported by this study are p. Q1997X, P. D73X and p. V336X.Kidney Blood Press Res 2018;43:471 –478
Source: Kidney and Blood Pressure Research - Category: Urology & Nephrology Source Type: research

Related Links:

Contributors : Feng Qian ; Hyunho KimSeries Type : Expression profiling by arrayOrganism : Mus musculusAnalysis of genome-wide transcriptional changes in cystic kidneys in the hypomorphic Pkd1V/V mouse model at postnatal day 10. The hypothesis tested in the present study was that metabolism is reprogrammed in polycystic kidney disease (PKD) in this model. Results provide important information of metabolic changes that affect glycolysis, mitochondrial metabolism, and fatty acid synthesis in the pathogenesis of PKD.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research
ConclusionsRigorous clinical observation recognizes processes ignored by the medical literature, and the correct application of the scientific method helps identify and reveal new nosological entities, confirming with this story's example that, in medicine, there are no exhausted issues.ResumenObjetivoRecordar la historia del descubrimiento de la enfermedad quística no nefronal, detectada simultáneamente en 2 hospitales madrileños y las vicisitudes que sufrieron los autores para que el proceso, ignorado en la literatura mundial, fuese reconocido.Material y métodoSe han analizado las primera...
Source: Actas Urologicas Espanolas - Category: Urology & Nephrology Source Type: research
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces pol...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Publication date: Available online 7 November 2018Source: Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseAuthor(s): Taylor Richards, Kavindiya Modarage, Charlotte Dean, Aidan McCarthy-Boxer, Helen Hilton, Chris Esapa, Jill Norman, Patricia Wilson, Paraskevi GoggolidouAbstractAutosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder with an incidence of ~1:20,000 that manifests in a wide range of renal and liver disease severity in human patients and can lead to perinatal mortality. ARPKD is caused by mutations in PKHD1, which encodes the large membrane protein, Fibrocystin, required for n...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
In conclusion, both kidney and liver cyst fluids contain paracrine signaling molecules that drive cyst formation. Using size exclusion chromatography and mass spectrometry, we procured a candidate list for future studies. Ultimately, cystogenic paracrine signaling molecules may be targeted to abrogate cystogenesis in ADPKD. PMID: 30403162 [PubMed - as supplied by publisher]
Source: Am J Physiol Renal P... - Category: Urology & Nephrology Authors: Tags: Am J Physiol Renal Physiol Source Type: research
In recent years, simple renal cysts have been associated with an increased risk of aortic aneurysms. There is little data regarding aortic dilation in patients with autosomal dominant polycystic kidney disease (ADPKD). The aim of this study was to compare Sinuses of Valsalva (SoV) and tubular ascending aorta diameters in ADPKD patients with matched controls. From 2008 to 2016, 61 consecutive ADPKD patients who had an echocardiogram performed in our institution were matched 1:1 with controls for sex, age, blood pressure and beta-blocker therapy use.
Source: The American Journal of Cardiology - Category: Cardiology Authors: Source Type: research
Authors: Da Silva-Álvarez S, Lamas-González O, Ferreirós A, González P, Gómez M, García-Caballero T, González Barcia M, García-González MA, Collado M Abstract Programmed cell senescence during embryo development is a recently described process that opens a new perspective to understand the senescence response and that adds a new player whose contribution to development needs to be addressed. Identifying developmental syndromes with a root in deregulated programmed cell senescence will undoubtedly reinforce our view of senescence and could provide a new ...
Source: International Journal of Developmental Biology - Category: Biology Tags: Int J Dev Biol Source Type: research
Conclusion: 18F-FDG PET/CT is a useful imaging modality for the evaluation of patients with ADPKD and suspected cyst infection.
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Clinical Source Type: research
C, Espino Hernández M PMID: 30392821 [PubMed - as supplied by publisher]
Source: Anales de Pediatria - Category: Pediatrics Authors: Tags: An Pediatr (Barc) Source Type: research
Blunt abdominal trauma in the setting of polycystic kidney disease is still scantly described in the literature and management guidelines of such patients are not well-established.
Source: BMC Emergency Medicine - Category: Emergency Medicine Authors: Tags: Case report Source Type: research
More News: Genetics | Iran Health | Polycystic Kidney Disease | Study | Urology & Nephrology