title: A missense mutation of the α-galactosidase A gene in a Chinese family of Fabry disease with renal failure.
abstract: BACKGROUND
  Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited.
  
  
  METHODS
  In this study, the α-gal A gene of a Chinese family diagnosed with FD was analyzed for mutations and the genetic features of FD in this family were presented.
  
  
  RESULTS
  The α-gal A activity of the proband in this family was 0.03 nmol/ml/h in the whole blood. By PCR amplification and sequencing of the α-gal A gene exons, a single C-to-T transition was identified in codon 112 of exon 2. This C-to-T transition, mapping to position 334 in the cDNA of the α-gal A gene, was a missense mutation predicting a substitution of arginine to cysteine (p.R112C), which disrupts the normal activity of α-gal A enzyme. No further mutations were found in other exons of the α-gal A gene. In contrast to previous reports, in this family, all of the five male patients developed end-stage renal failure due to this missense mutation.
  
  
  CONCLUSIONS
  These findings suggest that the missense mutation, p.R112C, in α-gal A gene ablates its activity and results in the development of FD with the renal damage.
authors.affiliation: Department of Nephrology, Union Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China 430022.
authors.forename: Chunli
authors.initials: C
authors.lastname: Wang
authors.forename: Yang
authors.initials: Y
authors.lastname: Wang
authors.forename: Feng
authors.initials: F
authors.lastname: Zhu
authors.forename: Jing
authors.initials: J
authors.lastname: Xiong
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D000795:Fabry Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase