1. A Novel Small Insertion Mutation, C.1030_1031ins (T) in α-Galactosidase A Leads to Renal Variant Fabry Disease.
- Author
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Choi, Joon Seok, Kim, Chang Seong, Park, Jeong Woo, Bae, Eun Hui, Ma, Seong Kwon, Choi, Yoo Duk, Kim, Gu Hwan, Yoo, Han Wook, and Kim, Soo Wan
- Subjects
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ANGIOKERATOMA corporis diffusum , *GENETIC mutation , *GALACTOSIDASES , *LYSOSOMES , *GENETIC code , *MOLECULAR biology , *PHENOTYPES - Abstract
Fabry disease is a rare X-linked recessive glycosphingolipid storage disease that is caused by a deficiency of the lysosomal α-galactosidase A (GLA) enzyme, encoded by the GLA gene. This deficiency leads to the accumulation of glycosphingolipids throughout the body, which, in turn, causes multisystem diseases associated with renal, cardiovascular, and cerebrovascular complications. Recent molecular studies of GLA have demonstrated the existence of atypical variants in Fabry disease, suggesting significant genotype-phenotype correlations. In this study, we describe a renal variant of Fabry disease caused by a novel small insertion mutation in the GLA gene. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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