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Войти в исследования Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.
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Mansour Bshara, Lemberg Katharina, Schneider Ronen, Saida Ken, Elmubarak Izzeldin, Yu Seyoung, Yousef Kirollos, Nicolas Frank Camille, Riedhammer Korbinian M, Zahoor Muhammad Yasir, Kolvenbach Caroline M, Merz Lea M, Mertens Nils D, Bao Aaron, Salmanullah Daanya, Kalkar Gina, Hölzel Selina, Zion Elena, Marchuk Daniel, Lomjansook Kraisoon, Braun Alina, Franken Gijs A C, Eid Loai A, Awad Hazem Subhi H, Al Saffar Muna, Soliman Neveen A, Nabhan Marwa M, Kari Jameela A, El Desoky Sherif, Shalaby Mohamed A, Ooda Said, Fathy Hanan M, Mane Shrikant, Shril Shirlee, Somers Michael J G, Buerger Florian, Hildebrandt Friedhelm
Аннотация
METHODS: We performed exome sequencing (ES) in 237 families, including 183 with SRNS and 54 with SSNS/SDNS.
RESULTS: A (likely) pathogenic variant in a known SRNS gene was identified in 29/183 individuals with SRNS (15.8%). Additionally, 6/183 (3.3%) individuals with SRNS carried pathogenic variants in phenocopy genes-genes associated with diseases that clinically mimic SRNS. The diagnostic yield was significantly higher in individuals with ≥ 50 Mb homozygosity-by-descent (HBD) (44.7% vs. 8.5%) and in those with SRNS disease onset before 1 year of age (41.9%). In individuals with SSNS/SDNS, we found a likely causative variant in only 1 of 54 probands.
CONCLUSIONS: A genetic cause was established in 19.1% of SRNS patients (15.8% in known SRNS genes and 3.3% in phenocopy genes), but only 1.9% of non-steroid-resistant cases.