title: Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
abstract: BACKGROUND
  Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. With the advancement of molecular diagnostic tools, more disease-causing mutations in α-galactosidase A (GLA) have been identified in Fabry disease. We found a novel mutation in a Korean family with predominant renal manifestations of the disease.
  
  
  METHODS
  A 24-year-old man who wanted to donate a kidney to his 28-year-old brother with end-stage renal disease of unknown cause was evaluated. The 24-year-old man underwent percutaneous renal biopsy because of an accidentally found proteinuria. Electron microscopy of his renal biopsy showed numerous electron-dense multi-lamellar inclusions in the epithelial cytoplasm, typical for Fabry disease. Clinical and laboratory evaluation including the assessment of GLA enzyme activity and direct DNA sequencing in four members of the family were performed. Renal biopsy findings in the two affected male patients were described. Re-evaluation of a renal biopsy specimen of his 28-year-old brother obtained when he was diagnosed with renal failure revealed a very focal area of suspicious multilamellated structures in the Bowman's space. DNA sequencing on the young man, his brother, and his mother revealed a novel GLA gene mutation, c.263A > G (p.Tyr88Cys). The three all showed decreased α-galactosidase A activity.
  
  
  CONCLUSIONS
  A novel GLA mutation, c.263A > G (p.Tyr88Cys), was found in a Korean family with predominant renal manifestations of Fabry disease.
authors: Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors: Yosep
authors: Y
authors: Chong
authors: Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors: Minyoung
authors: M
authors: Kim
authors: Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors: Eun Sil
authors: ES
authors: Koh
authors: Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors: Seok Joon
authors: SJ
authors: Shin
authors: Department of Biochemistry, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors: Ho-Shik
authors: HS
authors: Kim
authors: Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. sungjin.chung@outlook.com.
authors: Sungjin
authors: http://orcid.org/0000-0002-9886-8339
authors: S
authors: Chung
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001706:Biopsy; D000795:Fabry Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: C576330:GLA protein, human; D000519:alpha-Galactosidase
keywords: Dialysis; Fabry disease; Kidney biopsy; Proteinuria; α-galactosidase A