Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family

Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelia...

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Main Authors: Amaresh R. Vanga, Samantha A. Schrier Vergano, Jolanta Kowalewska, Thomas R. McCune
Format: Article
Language:English
Published: Hindawi Limited 2020-01-01
Series:Case Reports in Nephrology
Online Access:http://dx.doi.org/10.1155/2020/8899703
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spelling doaj-557dd07d8a8442f1acc30489871453ff2020-11-25T03:18:55ZengHindawi LimitedCase Reports in Nephrology2090-66412090-665X2020-01-01202010.1155/2020/88997038899703Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One FamilyAmaresh R. Vanga0Samantha A. Schrier Vergano1Jolanta Kowalewska2Thomas R. McCune3Division of Nephrology, Department of Internal Medicine, Eastern Virginia Medical School, Norfolk, VA, USADivision of Medical Genetics and Metabolism, Children’s Hospital of the King’s Daughters, Norfolk, VA, USADepartment of Pathology and Anatomy, Eastern Virginia Medical School, Norfolk, VA, USADivision of Nephrology, Department of Internal Medicine, Eastern Virginia Medical School, Norfolk, VA, USAFabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelial cells on biopsy, with electron microscopy showing inclusions within the cytoplasm of multiple podocytes consistent with Fabry disease. An alpha-galactosidase level was found to be 21 nm/hr/mg (normal range 50–150 nm/hr/mg). Genetic studies revealed a missense variant in the GLA gene with alanine replaced by cysteine at position 682 (c.682 A > C, p.N228H) that had not been previously associated with Fabry disease. The same variant was detected in two additional family members. The pathologic findings, clinical features, and low alpha-galactosidase level suggest that the c.682 A > C variant is associated with Fabry disease.http://dx.doi.org/10.1155/2020/8899703
collection DOAJ
language English
format Article
sources DOAJ
author Amaresh R. Vanga
Samantha A. Schrier Vergano
Jolanta Kowalewska
Thomas R. McCune
spellingShingle Amaresh R. Vanga
Samantha A. Schrier Vergano
Jolanta Kowalewska
Thomas R. McCune
Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
Case Reports in Nephrology
author_facet Amaresh R. Vanga
Samantha A. Schrier Vergano
Jolanta Kowalewska
Thomas R. McCune
author_sort Amaresh R. Vanga
title Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
title_short Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
title_full Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
title_fullStr Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
title_full_unstemmed Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
title_sort previously unidentified gene variation associated with fabry disease: the impact on one family
publisher Hindawi Limited
series Case Reports in Nephrology
issn 2090-6641
2090-665X
publishDate 2020-01-01
description Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelial cells on biopsy, with electron microscopy showing inclusions within the cytoplasm of multiple podocytes consistent with Fabry disease. An alpha-galactosidase level was found to be 21 nm/hr/mg (normal range 50–150 nm/hr/mg). Genetic studies revealed a missense variant in the GLA gene with alanine replaced by cysteine at position 682 (c.682 A > C, p.N228H) that had not been previously associated with Fabry disease. The same variant was detected in two additional family members. The pathologic findings, clinical features, and low alpha-galactosidase level suggest that the c.682 A > C variant is associated with Fabry disease.
url http://dx.doi.org/10.1155/2020/8899703
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