title: Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
abstract: A point mutation in exon 6 of the alpha-galactosidase A gene (alpha-GAL A) was found in a Japanese hemizygous male without typical manifestations of Fabry disease other than renal involvement. This 45-year-old man developed moderate proteinuria and was diagnosed with Fabry disease on the basis of renal histologic findings and prominent decreases in alpha-GAL A activity in his plasma, urine, leukocytes, and skin fibroblasts. Determination of the cDNA sequence of his alpha-GAL A gene revealed substitution of a G to A in codon 301, resulting in a glutamine rather than an arginine residue. Our case is unique in that this patient only demonstrated renal manifestations while all other reported patients with atypical Fabry disease, including a case with the identical point mutation, present with a cardiomyopathy. Direct DNA sequencing of exon 6 and measurement of alpha-GAL A activity among the patient's family confirmed that the mutation was transmitted from his mother.
authors: First Department of Medicine, Hamamatsu University School of Medicine, Japan.
authors: K
authors: K
authors: Sawada
authors: K
authors: K
authors: Mizoguchi
authors: A
authors: A
authors: Hishida
authors: E
authors: E
authors: Kaneko
authors: Y
authors: Y
authors: Koide
authors: K
authors: K
authors: Nishimura
authors: M
authors: M
authors: Kimura
mesh_terms: D001706:Biopsy; D015139:Blotting, Southern; D017931:DNA Primers; D018076:DNA, Complementary / Q000032:analysis*; D005091:Exons / Q000235:genetics; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011507:Proteinuria / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D000519:alpha-Galactosidase