title: A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
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.
authors.affiliation: Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea.
authors.forename: Joon Seok
authors.initials: JS
authors.lastname: Choi
authors.forename: Chang Seong
authors.initials: CS
authors.lastname: Kim
authors.forename: Jeong Woo
authors.initials: JW
authors.lastname: Park
authors.forename: Eun Hui
authors.initials: EH
authors.lastname: Bae
authors.forename: Seong Kwon
authors.initials: SK
authors.lastname: Ma
authors.forename: Yoo Duk
authors.initials: YD
authors.lastname: Choi
authors.forename: Gu Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Soo Wan
authors.initials: SW
authors.lastname: Kim
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007678:Kidney Glomerulus / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D016254:Mutagenesis, Insertional; D010375:Pedigree; D000519:alpha-Galactosidase / Q000235:genetics* / Q000378:metabolism
chemical_list: D004247:DNA; D000519:alpha-Galactosidase