Back to Search
Start Over
A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
- Source :
-
Renal failure [Ren Fail] 2012; Vol. 34 (3), pp. 390-3. Date of Electronic Publication: 2012 Jan 20. - Publication Year :
- 2012
-
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.
- Subjects :
- Adult
DNA Mutational Analysis
Diagnosis, Differential
Fabry Disease diagnosis
Fabry Disease enzymology
Follow-Up Studies
Genetic Predisposition to Disease
Genotype
Glomerulosclerosis, Focal Segmental diagnosis
Glomerulosclerosis, Focal Segmental enzymology
Humans
Kidney Glomerulus ultrastructure
Male
Microscopy, Electron
Pedigree
alpha-Galactosidase metabolism
DNA genetics
Fabry Disease genetics
Glomerulosclerosis, Focal Segmental genetics
Mutagenesis, Insertional
alpha-Galactosidase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1525-6049
- Volume :
- 34
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Renal failure
- Publication Type :
- Academic Journal
- Accession number :
- 22260214
- Full Text :
- https://doi.org/10.3109/0886022X.2011.647300