A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
Fabry disease is an X-linked lysosomal disease caused by mutations of the alpha-galactosidase A (GLA) gene at chromosome subband Xq22.1. To date, more than 600 genetic mutations have been identified to determine the nature and frequency of the molecular lesions causing the classical and milder variant phenotypes and for precise carrier detection. We report here a Fabry family (mother, son and daughter) where the alpha-galactosidase A defect was associated with a glucose-6-phosphate dehydrogenase (G6PD) deficiency. Mutation analysis revealed for the GLA gene the presence of a new mutation, i.e., a small deletion (c.452delA) on exon 3 and for the G6PD gene the presence of 2 mutations, p.V68M (G6PD Asahi, G6PD A+) and p.N126D (G6PD A+) on exon 3 and exon 4, respectively.
Department of Nephrology, University of Naples Federico II, Naples, Italy. antonio.pisani@libero.it
Antonio
A
Pisani
Bianca
B
Visciano
Roberta
R
Russo
Giusi R
GR
Mozzillo
Caterina
C
Porto
Ilaria
I
De Maggio
Roberta
R
Russo
Gianfranco
G
Pontarelli
Guglielmo R D
GR
Villani
Bruno
B
Cianciaruso
Paola
P
Di Natale
D000293:Adolescent; D004252:DNA Mutational Analysis; D056947:Enzyme Replacement Therapy; D005091:Exons; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D005236:Favism / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics* / Q000627:therapeutic use
D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase; D000519:alpha-Galactosidase; C459420:agalsidase beta