Sp909pattern of Clinical Presentation of Congenital Anomalies of the Kidney and Urinary Tract Among Infants and Children

Soliman, Neveen A.; Ali, Reham I; Emil, Emad; Habib, E; Ziada, Ali

doi:10.1093/ndt/gfv203.47

Nephrology Dialysis Transplantation

2015

DOI: 10.1093/ndt/gfv203.47

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Sp909pattern of Clinical Presentation of Congenital Anomalies of the Kidney and Urinary Tract Among Infants and Children

Neveen A. Soliman

Reham I Ali

Emad Emil

et al.

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2022

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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

Hoefele

Riedhammer

Ćomić³

et al. 2022

Preprint

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Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A monogenic cause can be identified in approximately 12% of affected individuals. This study investigated a single-center CAKUT cohort analyzed by exome sequencing (ES). Emphasis was placed on the question whether diagnostic yield differs between certain CAKUT phenotypes (e.g., bilateral kidney affection, unilateral kidney affection or only urinary tract affection). 86 unrelated individuals with CAKUT were categorized according to their phenotype and analyzed by ES to identify a monogenic cause. Prioritized variants were rated according to recommendations of the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science. Diagnostic yields of different phenotypic categories were compared. Clinical data were collected using a standardized questionnaire. In the study cohort, 7/86 individuals had a (likely) pathogenic variant in the genes PAX2, PBX1, EYA1 or SALL1. Additionally, in one individual, a 17q12 deletion syndrome (including HNF1B) was detected. 62 individuals had a kidney affection, which was bilateral in 36. All solved cases (8/86, 9%) had bilateral kidney affection (diagnostic yield in subcohort: 8/36, 22%). Although the diagnostic yield in CAKUT cohorts is low, our single-center experience argues, that, in individuals with bilateral kidney affection, monogenic burden is higher than in those with unilateral kidney or only urinary tract affection.

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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

Hoefele

Riedhammer

Ćomić³

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

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Sp909pattern of Clinical Presentation of Congenital Anomalies of the Kidney and Urinary Tract Among Infants and Children

Cited by 1 publication

References 0 publications

Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

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