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Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population |
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| Authors: | Beata S. Lipska Irena Balasz-Chmielewska Lucyna Morzuch Kacper Wasielewski Dominika Vetter Halina Borzecka Dorota Drozdz Agnieszka Firszt-Adamczyk Ewa Gacka Tomasz Jarmolinski Joanna Ksiazek Elzbieta Kuzma-Mroczkowska Mieczyslaw Litwin Anna Medynska Magdalena Silska Maria Szczepanska Marcin Tkaczyk Anna Wasilewska Franz Schaefer Aleksandra Zurowska Janusz Limon |
| Affiliation: | 1. Department of Biology and Genetics, Medical University of Gdansk, Debinki str. 1, 80211, Gdansk, Poland 2. Department of Nephrology and Hypertension for Children and Adolescents, Medical University of Gdansk, Debinki str. 7, 80211, Gdansk, Poland 3. Department of Pediatric Nephrology, Medical University of Lublin, Chodzki str. 2, 20093, Lublin, Poland 4. Pediatric Nephrology and Dialysis Unit, Jagiellonian University Medical College, Cracow, Wielicka str. 265, 30663, Cracow, Poland 5. Department of Pediatrics and Nephrology, The Ludwik Rydygier Hospital in Torun ‐ Children Hospital, Konstytucji 3 Maja str. 42, 87100, Torun, Poland 6. Child Nephrology Department, Center of Pediatrics and Oncology in Chorzow, Truchana str. 7, 41500, Chorzow, Poland 7. Miedzyrzecz Regional Hospital, Konstytucji 3 Maja str. 35, 66300, Miedzyrzecz, Poland 8. Department of Nephrology and Arterial Hypertension, The Children’s Memorial Health Institute, Dzieci Polskich Av. 20, 04730, Warsaw, Poland 9. Department of Pediatrics and Nephrology, Medical University of Warsaw, Marszalkowska 24, 00576, Warsaw, Poland 10. Department of Pediatric Nephrology, Wroclaw Medical University, Wroclaw, Curie-Sklodowskiej str. 50/52, 50369, Wroclaw, Poland 11. Department of Pediatric Nephrology, Poznan University of Medical Sciences, Szpitalna str. 27/33, Poznan, 60572, Poland 12. Department and Clinic of Children’s Nephrology, Medical University of Silesia, 3 Maja str. 13/15, 41800, Zabrze, Poland 13. Nephrology Division, Polish Mother’s Memorial Hospital Research Institute, Rzgowska str. 281/289, 93338, Lodz, Poland 14. Department of Pediatrics and Nephrology, Medical University of Bialystok, Waszyngtona str. 17, 15274, Bialystok, Poland 15. Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany |
| Abstract: | Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease. A total of 141 children with steroid-resistant nephrotic syndrome (SRNS) were enrolled in the study. Mutational analysis included the entire coding sequence and intron boundaries of the NPHS2 gene. Restriction fragment length polymorphism (RFLP) and TaqMan genotyping assay were applied to detect selected NPHS2 sequence variants in 575 population-matched controls. Twenty patients (14 %) had homozygous or compound heterozygous NPHS2 mutations, the most frequent being c.1032delT found in 11 children and p.R138Q found in four patients. Carriers of the c.1032delT allele were exclusively found in the Pomeranian (Kashubian) region, suggesting a founder effect origin. The 14 % NPHS2 gene mutation detection rate is similar to that observed in other populations. The heterogeneity of mutations detected in the studied group confirms the requirement of genetic testing the entire NPHS2 coding sequence in Polish patients, with the exception of Kashubs, who should be initially screened for the c.1032delT deletion. |
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