title: p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.
abstract: BACKGROUND
  Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease.
  
  
  METHODS
  We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated.
  
  
  CONCLUSIONS
  Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease.
authors.affiliation: Department of Nephrology, Baskent University Faculty of Medicine Adana Medical and Research Center, Adana, Turkey.
authors.forename: Ruya
authors.initials: R
authors.lastname: Ozelsancak
authors.affiliation: Department of Nephrology, Baskent University Faculty of Medicine Adana Medical and Research Center, Adana, Turkey.
authors.forename: Bulent
authors.initials: B
authors.lastname: Uyar
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D000795:Fabry Disease / Q000235:genetics*; D005923:Glomerulosclerosis, Focal Segmental / Q000209:etiology; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D000519:alpha-Galactosidase