Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

American journal of medical genetics. Part A - 1 Nov 2020

Stevenson Mark, Pagnamenta Alistair T, Reichart Silvia, Philpott Charlotte, Lines Kate E, Gorvin Caroline M, Lhotta Karl, Taylor Jenny C, Thakker Rajesh V

Abstract excerpt

Hereditary hyperuricemia may occur as part of a syndromic disorder or as an isolated nonsyndromic disease, and over 20 causative genes have been identified. Here, we report the use of whole genome sequencing (WGS) to establish a diagnosis in a family in which individuals were affected with gout, hyperuricemia associated with reduced fractional excretion of uric acid, chronic kidney disease (CKD), and secondary...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Creatinine
Share to Hyperuricemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to PAX2 Transcription Factor

Share to Renal Insufficiency, Chronic

Share to Uric Acid

Share to Uromodulin

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 32776440
DOI: 10.1002/ajmg.a.61814
PMCID: PMC7611017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.PMID 32776440Read ↗

Hyperuricemia and gout as uncommon manifestation of Papillorenal syndrome in an 18-year-old young man with PAX 2 mutation : A Case report and review of the literatureSemantic proximity Read ↗

Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria.Semantic proximity Read ↗

Genotype-phenotype analysis in patients with PAX2 mutations: beyond renal coloboma syndromeSemantic proximity Read ↗

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.Semantic proximity Read ↗

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.Semantic proximity Read ↗

Clinical and genetic variability of PAX2-related disorder in the Japanese population.Semantic proximity Read ↗

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by aPAX2mutationSemantic proximity Read ↗

Unraveling the genetic causes in large pedigrees with gout by whole‑exome sequencing.Semantic proximity Read ↗

A Case of UMOD-Associated Nephropathy Mimicking Focal Segmental Glomerulosclerosis in a Young Male with a Positive Family HistorySemantic proximity Read ↗

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

Genetic predisposition to hypouricemia on whole-exome sequencing analysis and its utilities in primary screening purposesSemantic proximity Read ↗

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.