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A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.

Research paper by Joon Seok JS Choi, Chang Seong CS Kim, Jeong Woo JW Park, Eun Hui EH Bae, Seong Kwon SK Ma, Yoo Duk YD Choi, Gu Hwan GH Kim, Han Wook HW Yoo, Soo Wan SW Kim

Indexed on: 21 Jan '12Published on: 21 Jan '12Published in: Renal failure



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.