A novel TRPC6mutation in a family with podocytopathy and clinical variability

Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 yea...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Mottl, Amy K [verfasserIn] Lu, Mei Fine, Catherine A Weck, Karen E

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2013

Schlagwörter:	Proteinuria Minimal change disease Focal segmental glomerulosclerosis Genetic testing TRPC6 Genotype-phenotype correlation

Anmerkung:	© Mottl et al.; licensee BioMed Central Ltd. 2013

Übergeordnetes Werk:	Enthalten in: BMC nephrology - London : BioMed Central, 2000, 14(2013), 1 vom: 10. Mai
Übergeordnetes Werk:	volume:14 ; year:2013 ; number:1 ; day:10 ; month:05

Links:	Volltext

DOI / URN:	10.1186/1471-2369-14-104

Katalog-ID:	SPR027509206

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520			\|a Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases.
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allfields	10.1186/1471-2369-14-104 doi (DE-627)SPR027509206 (SPR)1471-2369-14-104-e DE-627 ger DE-627 rakwb eng Mottl, Amy K verfasserin aut A novel TRPC6mutation in a family with podocytopathy and clinical variability 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mottl et al.; licensee BioMed Central Ltd. 2013 Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases. Proteinuria (dpeaa)DE-He213 Minimal change disease (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 TRPC6 (dpeaa)DE-He213 Genotype-phenotype correlation (dpeaa)DE-He213 Lu, Mei aut Fine, Catherine A aut Weck, Karen E aut Enthalten in BMC nephrology London : BioMed Central, 2000 14(2013), 1 vom: 10. Mai (DE-627)326643672 (DE-600)2041348-8 1471-2369 nnns volume:14 year:2013 number:1 day:10 month:05 https://dx.doi.org/10.1186/1471-2369-14-104 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2013 1 10 05
spelling	10.1186/1471-2369-14-104 doi (DE-627)SPR027509206 (SPR)1471-2369-14-104-e DE-627 ger DE-627 rakwb eng Mottl, Amy K verfasserin aut A novel TRPC6mutation in a family with podocytopathy and clinical variability 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mottl et al.; licensee BioMed Central Ltd. 2013 Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases. Proteinuria (dpeaa)DE-He213 Minimal change disease (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 TRPC6 (dpeaa)DE-He213 Genotype-phenotype correlation (dpeaa)DE-He213 Lu, Mei aut Fine, Catherine A aut Weck, Karen E aut Enthalten in BMC nephrology London : BioMed Central, 2000 14(2013), 1 vom: 10. Mai (DE-627)326643672 (DE-600)2041348-8 1471-2369 nnns volume:14 year:2013 number:1 day:10 month:05 https://dx.doi.org/10.1186/1471-2369-14-104 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2013 1 10 05
allfields_unstemmed	10.1186/1471-2369-14-104 doi (DE-627)SPR027509206 (SPR)1471-2369-14-104-e DE-627 ger DE-627 rakwb eng Mottl, Amy K verfasserin aut A novel TRPC6mutation in a family with podocytopathy and clinical variability 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mottl et al.; licensee BioMed Central Ltd. 2013 Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases. Proteinuria (dpeaa)DE-He213 Minimal change disease (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 TRPC6 (dpeaa)DE-He213 Genotype-phenotype correlation (dpeaa)DE-He213 Lu, Mei aut Fine, Catherine A aut Weck, Karen E aut Enthalten in BMC nephrology London : BioMed Central, 2000 14(2013), 1 vom: 10. Mai (DE-627)326643672 (DE-600)2041348-8 1471-2369 nnns volume:14 year:2013 number:1 day:10 month:05 https://dx.doi.org/10.1186/1471-2369-14-104 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2013 1 10 05
allfieldsGer	10.1186/1471-2369-14-104 doi (DE-627)SPR027509206 (SPR)1471-2369-14-104-e DE-627 ger DE-627 rakwb eng Mottl, Amy K verfasserin aut A novel TRPC6mutation in a family with podocytopathy and clinical variability 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mottl et al.; licensee BioMed Central Ltd. 2013 Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases. Proteinuria (dpeaa)DE-He213 Minimal change disease (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 TRPC6 (dpeaa)DE-He213 Genotype-phenotype correlation (dpeaa)DE-He213 Lu, Mei aut Fine, Catherine A aut Weck, Karen E aut Enthalten in BMC nephrology London : BioMed Central, 2000 14(2013), 1 vom: 10. Mai (DE-627)326643672 (DE-600)2041348-8 1471-2369 nnns volume:14 year:2013 number:1 day:10 month:05 https://dx.doi.org/10.1186/1471-2369-14-104 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2013 1 10 05
allfieldsSound	10.1186/1471-2369-14-104 doi (DE-627)SPR027509206 (SPR)1471-2369-14-104-e DE-627 ger DE-627 rakwb eng Mottl, Amy K verfasserin aut A novel TRPC6mutation in a family with podocytopathy and clinical variability 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mottl et al.; licensee BioMed Central Ltd. 2013 Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases. Proteinuria (dpeaa)DE-He213 Minimal change disease (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 TRPC6 (dpeaa)DE-He213 Genotype-phenotype correlation (dpeaa)DE-He213 Lu, Mei aut Fine, Catherine A aut Weck, Karen E aut Enthalten in BMC nephrology London : BioMed Central, 2000 14(2013), 1 vom: 10. Mai (DE-627)326643672 (DE-600)2041348-8 1471-2369 nnns volume:14 year:2013 number:1 day:10 month:05 https://dx.doi.org/10.1186/1471-2369-14-104 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2013 1 10 05
language	English
source	Enthalten in BMC nephrology 14(2013), 1 vom: 10. Mai volume:14 year:2013 number:1 day:10 month:05
sourceStr	Enthalten in BMC nephrology 14(2013), 1 vom: 10. Mai volume:14 year:2013 number:1 day:10 month:05
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Proteinuria Minimal change disease Focal segmental glomerulosclerosis Genetic testing TRPC6 Genotype-phenotype correlation
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container_title	BMC nephrology
authorswithroles_txt_mv	Mottl, Amy K @@aut@@ Lu, Mei @@aut@@ Fine, Catherine A @@aut@@ Weck, Karen E @@aut@@
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author	Mottl, Amy K
spellingShingle	Mottl, Amy K misc Proteinuria misc Minimal change disease misc Focal segmental glomerulosclerosis misc Genetic testing misc TRPC6 misc Genotype-phenotype correlation A novel TRPC6mutation in a family with podocytopathy and clinical variability
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topic_title	A novel TRPC6mutation in a family with podocytopathy and clinical variability Proteinuria (dpeaa)DE-He213 Minimal change disease (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 TRPC6 (dpeaa)DE-He213 Genotype-phenotype correlation (dpeaa)DE-He213
topic	misc Proteinuria misc Minimal change disease misc Focal segmental glomerulosclerosis misc Genetic testing misc TRPC6 misc Genotype-phenotype correlation
topic_unstemmed	misc Proteinuria misc Minimal change disease misc Focal segmental glomerulosclerosis misc Genetic testing misc TRPC6 misc Genotype-phenotype correlation
topic_browse	misc Proteinuria misc Minimal change disease misc Focal segmental glomerulosclerosis misc Genetic testing misc TRPC6 misc Genotype-phenotype correlation
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title	A novel TRPC6mutation in a family with podocytopathy and clinical variability
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title_full	A novel TRPC6mutation in a family with podocytopathy and clinical variability
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title_sort	novel trpc6mutation in a family with podocytopathy and clinical variability
title_auth	A novel TRPC6mutation in a family with podocytopathy and clinical variability
abstract	Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases. © Mottl et al.; licensee BioMed Central Ltd. 2013
abstractGer	Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases. © Mottl et al.; licensee BioMed Central Ltd. 2013
abstract_unstemmed	Background Mutation in several podocyte-specific genes have been noted to result in phenotypic heterogeneity. Herein, we report a novel, autosomal dominant TRPC6 mutation in a family with disease ranging from asymptomatic minimal change disease to end-stage kidney disease. Case presentation A 35 year old woman developed asymptomatic, nephrotic range proteinuria during pregnancy that did not resolve after delivery. Her mother had end-stage kidney disease of unknown etiology and her brother had asymptomatic proteinuria. Kidney biopsy revealed minimal change disease in both the proband and her brother. Genetic testing was performed in the proband and mother, revealing a novel frameshift mutation in TRPC6, D873fsX878. The proband continues to have subnephrotic range proteinuria and normal creatinine but her brother has since developed progressive chronic kidney disease. Conclusions The current case report underscores the heterogeneity of disease in podocytopathies and related genes. Genetic testing of podocyte genes is useful in order to understand the pathophysiologic processes underlying these overlapping diseases. © Mottl et al.; licensee BioMed Central Ltd. 2013
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title_short	A novel TRPC6mutation in a family with podocytopathy and clinical variability
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A novel TRPC6mutation in a family with podocytopathy and clinical variability

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