Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Warejko, Jillian; Tan, Weizhen; Daga, Ankana; Schapiro, David; Lawson, Jennifer; Shril, Shirlee; Lovric, Svjetlana; Ashraf, Shazia; Rao, Jia; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar; Schneider, Ronen; Gee, Heon; Schmidt, J.; Vivante, Asaf; van der Ven, Amelie; Ityel, Hadas; Chen, Jing; Sadowski, Carolin; Kohl, Stefan; Pabst, Werner; Nakayama, Makiko; Somers, Michael; Rodig, Nancy; Daouk, Ghaleb; Baum, Michelle; Stein, Deborah; Ferguson, Michael; Traum, Avram; Soliman, Neveen; Kari, Jameela; El Desoky, Sherif; Fathy, Hanan; Zenker, Martin; Bakkaloglu, Sevcan; Mueller, Dominik; Noyan, Aytul; Ozaltin, FATİH; Cadnapaphornchai, Melissa; Hashmi, Seema; Hopcian, Jeffrey; Kopp, Jeffrey; Benador, Nadine; Bockenhauer, Detlef; Bogdanovic, Radovan; Stajic, Natasa; Chernin, Gil; Ettenger, Robert; Fehrenbach, Henry; Kemper, Markus; Munarriz, Reyner; Podracka, Ludmila; Buscher, Rainer; Serdaroglu, Erkin; Tasic, Velibor; Mane, Shrikant; Lifton, Richard; Braun, Daniela; Hildebrandt, Friedhelm

doi:10.2215/cjn.04120417

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Warejko J. K., Tan W., Daga A., Schapiro D., Lawson J. A., Shril S., ...Daha Fazla

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, cilt.13, sa.1, ss.53-62, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 13 Sayı: 1
Basım Tarihi: 2018
Doi Numarası: 10.2215/cjn.04120417
Dergi Adı: CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.53-62
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families.