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Article

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.

European journal of human genetics : EJHG - 1 Feb 2021

Braunisch Matthias Christoph, Riedhammer Korbinian Maria, Herr Pierre-Maurice, Draut Sarah, Günthner Roman, Wagner Matias, Weidenbusch Marc, Lungu Adrian, Alhaddad Bader, Renders Lutz, Strom Tim M, Heemann Uwe, Meitinger Thomas, Schmaderer Christoph, Hoefele Julia

Abstract excerpt

In about 30% of infantile, juvenile, or adolescent patients with steroid-resistant nephrotic syndrome (SRNS), a monogenic cause can be identified. The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). Genetic data on adult patients are scarce with low diagnostic yields. Exome sequencing (ES) was performed in patients with adult disease onset and a high likelihood for hereditary...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32887937
DOI: 10.1038/s41431-020-00719-3
PMCID: PMC7868362

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