Publications by authors named "Catherine A Fine"

3 Publications

  • Page 1 of 1

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

BMC Nephrol 2013 May 10;14:104. Epub 2013 May 10.

University of North Carolina Kidney Center, UNC School of Medicine, Chapel Hill, NC, USA.

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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http://dx.doi.org/10.1186/1471-2369-14-104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662586PMC
May 2013

A newborn with hair loss.

Clin Pediatr (Phila) 2013 Feb;52(2):187-9

University of North Carolina Chapel Hill, Chapel Hill, NC 27516, USA.

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http://dx.doi.org/10.1177/0009922812471714DOI Listing
February 2013

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature.

Am J Med Genet A 2006 Apr;140(8):923-30

Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA.

We describe a 12-year-old patient, the second live born prenatally ascertained patient in the literature, with a de novo isodicentric X chromosome, karyotype 46,X,idic(X)(q24), with normal growth and development and lack of dysmorphic features. Molecular and cytogenetic studies were performed to further characterize the isodicentric chromosome X behavior. Literature on isodicentric X chromosomes with various breakpoints on Xq is reviewed and summarized.
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http://dx.doi.org/10.1002/ajmg.a.31184DOI Listing
April 2006