Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

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Atıf İçin Kopyala

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)

• 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
• 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.