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Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population

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 en...

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Autores principales: Lipska, Beata S., Balasz-Chmielewska, Irena, Morzuch, Lucyna, Wasielewski, Kacper, Vetter, Dominika, Borzecka, Halina, Drozdz, Dorota, Firszt-Adamczyk, Agnieszka, Gacka, Ewa, Jarmolinski, Tomasz, Ksiazek, Joanna, Kuzma-Mroczkowska, Elzbieta, Litwin, Mieczyslaw, Medynska, Anna, Silska, Magdalena, Szczepanska, Maria, Tkaczyk, Marcin, Wasilewska, Anna, Schaefer, Franz, Zurowska, Aleksandra, Limon, Janusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721000/
https://www.ncbi.nlm.nih.gov/pubmed/23645318
http://dx.doi.org/10.1007/s13353-013-0147-z
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author Lipska, Beata S.
Balasz-Chmielewska, Irena
Morzuch, Lucyna
Wasielewski, Kacper
Vetter, Dominika
Borzecka, Halina
Drozdz, Dorota
Firszt-Adamczyk, Agnieszka
Gacka, Ewa
Jarmolinski, Tomasz
Ksiazek, Joanna
Kuzma-Mroczkowska, Elzbieta
Litwin, Mieczyslaw
Medynska, Anna
Silska, Magdalena
Szczepanska, Maria
Tkaczyk, Marcin
Wasilewska, Anna
Schaefer, Franz
Zurowska, Aleksandra
Limon, Janusz
author_facet Lipska, Beata S.
Balasz-Chmielewska, Irena
Morzuch, Lucyna
Wasielewski, Kacper
Vetter, Dominika
Borzecka, Halina
Drozdz, Dorota
Firszt-Adamczyk, Agnieszka
Gacka, Ewa
Jarmolinski, Tomasz
Ksiazek, Joanna
Kuzma-Mroczkowska, Elzbieta
Litwin, Mieczyslaw
Medynska, Anna
Silska, Magdalena
Szczepanska, Maria
Tkaczyk, Marcin
Wasilewska, Anna
Schaefer, Franz
Zurowska, Aleksandra
Limon, Janusz
author_sort Lipska, Beata S.
collection PubMed
description 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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spelling pubmed-37210002013-07-31 Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population Lipska, Beata S. Balasz-Chmielewska, Irena Morzuch, Lucyna Wasielewski, Kacper Vetter, Dominika Borzecka, Halina Drozdz, Dorota Firszt-Adamczyk, Agnieszka Gacka, Ewa Jarmolinski, Tomasz Ksiazek, Joanna Kuzma-Mroczkowska, Elzbieta Litwin, Mieczyslaw Medynska, Anna Silska, Magdalena Szczepanska, Maria Tkaczyk, Marcin Wasilewska, Anna Schaefer, Franz Zurowska, Aleksandra Limon, Janusz J Appl Genet Human Genetics • Original Paper 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. Springer Berlin Heidelberg 2013-05-05 2013 /pmc/articles/PMC3721000/ /pubmed/23645318 http://dx.doi.org/10.1007/s13353-013-0147-z Text en © The Author(s) 2013 https://creativecommons.org/licenses/by-nc/2.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Human Genetics • Original Paper
Lipska, Beata S.
Balasz-Chmielewska, Irena
Morzuch, Lucyna
Wasielewski, Kacper
Vetter, Dominika
Borzecka, Halina
Drozdz, Dorota
Firszt-Adamczyk, Agnieszka
Gacka, Ewa
Jarmolinski, Tomasz
Ksiazek, Joanna
Kuzma-Mroczkowska, Elzbieta
Litwin, Mieczyslaw
Medynska, Anna
Silska, Magdalena
Szczepanska, Maria
Tkaczyk, Marcin
Wasilewska, Anna
Schaefer, Franz
Zurowska, Aleksandra
Limon, Janusz
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population
title Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population
title_full Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population
title_fullStr Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population
title_full_unstemmed Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population
title_short Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population
title_sort mutational analysis in podocin-associated hereditary nephrotic syndrome in polish patients: founder effect in the kashubian population
topic Human Genetics • Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721000/
https://www.ncbi.nlm.nih.gov/pubmed/23645318
http://dx.doi.org/10.1007/s13353-013-0147-z
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