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Pediatr Nephrol (2007) 22:20312040 DOI 10.1007/s00467-007-0595-y
ORIGINAL ARTICLE
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome
Afig Berdeli & Sevgi Mir & Onder Yavascan &
Erkin Serdaroglu & Mustafa Bak & Nejat Aksu &
Ayse Oner & Ali Anarat & Osman Donmez &
Nurhan Yildiz & Lale Sever & Yilmaz Tabel &
Ruhan Dusunsel & Ferah Sonmez & Nilgun Cakar
Received: 4 April 2007 / Revised: 10 July 2007 / Accepted: 13 July 2007 / Published online: 25 September 2007 # IPNA 2007
Abstract The podocin (NPHS2) gene encodes podocin protein, which has an important role in glomerular ultrafiltration and controlling slit membrane permeability. The detection of an NPHS2 mutation affects the treatment plan for children with nephritic syndrome (NS). The
frequency and spectrum of podocin mutations in the Turkish population have remained largely unknown. The aim of this study was to screen for podocin mutations in Turkish patients with steroid-resistant NS (SRNS) and to compare it with other published series. There were 295
A. Berdeli (*)
Department of Molecular Genetics, Ege University Faculty of Medicine, Izmir, Turkeye-mail: [email protected]
S. Mir : O. Yavascan Pediatric Nephrology, Ege University Faculty of Medicine, Izmir, Turkey
E. Serdaroglu : M. Bak Pediatric Nephrology, Behcet Uz Childrens Hospital, Izmir, Turkey
N. AksuPediatric Nephrology, Tepecik Teaching and Research Hospital, Izmir, Turkey
A. Oner Pediatric Nephrology, Sami Ulus Childrens Hospital, Ankara, Turkey
A. AnaratFaculty of Medicine, Pediatric Nephrology, Cukurova University,Adana, Turkey
O. DonmezPediatric Nephrology, Faculty of Medicine, Uludag University,Bursa, Turkey
N. YildizPediatric Nephrology, Goztepe Teaching and Research Hospital, Izmir, Turkey
L. Sever Pediatric Nephrology, Cerrahpasa Faculty of Medicine, Istanbul University,Istanbul, Turkey
Y. TabelPediatric Nephrology, Inonu University Faculty of Medicine, Malatya, Turkey
R. DusunselPediatric Nephrology, Erciyes University Faculty of Medicine, Kayseri, Turkey
F. SonmezPediatric Nephrology, Aydin Adnan Menderes University Faculty of Medicine, Aydin, Turkey
N. CakarPediatric Nephrology, Ankara Diskapi Education and Research Hospital, Ankara, Turkey
2032 Pediatr Nephrol (2007) 22:20312040
children with SRNS, originating from Turkey, included in this study. Forty-one patients (13.8%) had familial NS and 254 patients (86.2%) had sporadic NS. Mutation analysis was performed in all eight exons of the NPHS2 gene with the direct DNA sequencing method. There were 53 different pathogenetic NPHS2 mutations detected, including 37 novel mutations. The mutation detection rate was24.7% for all...