Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
We screened the aldolase B gene in 14 unrelated Italian patients with hereditary fructose intolerance (HFI), and found two novel disease related mutations: a single nucleotide deletion in exon 2 (delta A20) that leads to an early stop codon, and a C-->T transition in exon 8 that substitutes an Arg with a Trp residue at codon 303 (R303W).
Santamaria
R
R
Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, Medical School Università di Napoli Federico II, Italy.
Tamasi
S
S
Del Piano
G
G
Sebastio
G
G
Andria
G
G
Borrone
C
C
Faldella
G
G
Izzo
P
P
Salvatore
F
F
D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005633:Fructose Intolerance / Q000201:enzymology / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
D005634:Fructose-Bisphosphate Aldolase