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Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2024

Pantel Dalia, Mertens Nils D, Schneider Ronen, Hölzel Selina, Kari Jameela A, Desoky Sherif El, Shalaby Mohamed A, Lim Tze Y, Sanna-Cherchi Simone, Shril Shirlee, Hildebrandt Friedhelm

Abstract excerpt

BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of kidney failure in children and adults under the age of 20 years. Previously, we were able to detect by exome sequencing (ES) a known monogenic cause of SRNS in 25-30% of affected families. However, ES falls short of detecting copy number variants (CNV). Therefore, we hypothesized that causal CNVs could be detected in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37670083
DOI: 10.1007/s00467-023-06134-2
PMCID: PMC10979458

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