A novel TRPC6 mutation in a family with podocytopathy and clinical variability

Mottl, Amy K; Lu, Mei; Fine, Catherine A; Weck, Karen E

doi:10.1186/1471-2369-14-104

i

A novel TRPC6 mutation in a family with podocytopathy and clinical variability

Supporting Files

May 10 2013
By Mottl, Amy K ; Lu, Mei ; Fine, Catherine A ; ...

Details

Alternative Title:

BMC Nephrol
Personal Author:

Mottl, Amy K ; Lu, Mei ; Fine, Catherine A ; Weck, Karen E
Description:

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.
Subjects:

Adult Case Report Female Focal Segmental Glomerulosclerosis Frameshift Mutation Genetic Testing Genotype-phenotype Correlation Humans Kidney Failure, Chronic Male Minimal Change Disease Pedigree Podocytes Proteinuria TRPC6 TRPC Cation Channels
Source:

BMC Nephrol. 2013; 14:104.
Pubmed ID:

23663351
Pubmed Central ID:

PMC3662586
Document Type:

Journal Article
Funding:

1K23DK093804-01/DK/NIDDK NIH HHS/United States ; 1U18DP002708-01/DP/NCCDPHP CDC HHS/United States ; 5-U01HG006487-02/HG/NHGRI NIH HHS/United States ; 5-UL1RR025747-04/RR/NCRR NIH HHS/United States
Volume:

14
Collection(s):

CDC Public Access
Main Document Checksum:

urn:sha256:cfda8e311d62c8b010c8428f6b33d0e0f0d11159f8182f86c2a90cc63a1fe2fc
Download URL:

https://stacks.cdc.gov/view/cdc/22606/cdc_22606_DS1.pdf
File Type:

[PDF - 527.63 KB ]

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