Nephrotic Syndrome With Mutations in NPHS2 : The Role of R229Q and Implications for Genetic Counseling
Copyright © 2018 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved..
Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995). Basic research and clinical studies have provided important insights about genotype-phenotype correlations. This knowledge allows personalized genetic (risk) counseling and should lead to changes in the advice given to patients. A patient who carries the R229Q variant (which has a high allele frequency of 3.7% in the European population) in combination with a pathogenic variant in exon 7 or 8 is at high risk for developing nephrotic syndrome that may not manifest before adulthood, whereas a patient with 2 pathogenic variants will develop congenital or childhood-onset nephrotic syndrome. In contrast, a patient who carries the R229Q variant in combination with a pathogenic variant in exons 1 to 6 is unlikely to develop nephrotic syndrome. In this article, we review the emerging knowledge about the NPHS2 gene and translate these findings from the bench to practical advice for the clinical bedside.
| Errataetall: |
CommentIn: Am J Kidney Dis. 2019 Apr;73(4):576. - PMID 30777632 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:73 |
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| Enthalten in: |
American journal of kidney diseases : the official journal of the National Kidney Foundation - 73(2019), 3 vom: 01. März, Seite 400-403 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Rood, Ilse M [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 26.12.2019 Date Revised 26.12.2019 published: Print-Electronic CommentIn: Am J Kidney Dis. 2019 Apr;73(4):576. - PMID 30777632 Citation Status MEDLINE |
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| doi: |
10.1053/j.ajkd.2018.06.034 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
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| 520 | |a Copyright © 2018 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995). Basic research and clinical studies have provided important insights about genotype-phenotype correlations. This knowledge allows personalized genetic (risk) counseling and should lead to changes in the advice given to patients. A patient who carries the R229Q variant (which has a high allele frequency of 3.7% in the European population) in combination with a pathogenic variant in exon 7 or 8 is at high risk for developing nephrotic syndrome that may not manifest before adulthood, whereas a patient with 2 pathogenic variants will develop congenital or childhood-onset nephrotic syndrome. In contrast, a patient who carries the R229Q variant in combination with a pathogenic variant in exons 1 to 6 is unlikely to develop nephrotic syndrome. In this article, we review the emerging knowledge about the NPHS2 gene and translate these findings from the bench to practical advice for the clinical bedside | ||
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| 700 | 1 | |a Wetzels, Jack F M |e verfasserin |4 aut | |
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