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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Series: | Case Reports in Nephrology |
Online Access: | http://dx.doi.org/10.1155/2020/8899703 |
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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 |
work_keys_str_mv |
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