Hum Mutat. 2004 Dec;24(6):534.

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F.

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Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli Federico I, Italy.

Abstract

Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB). To-date, 29 enzyme-impairing mutations have been identified in the aldolase B gene. Here we report six novel HFI single nucleotide changes identified by sequence analysis in the aldolase B gene. Three of these are missense mutations (g.6846T>C, g.10236G>T, g.10258T>C), one is a nonsense mutation (g.8187C>T) and two affect splicing sites (g.8180G>C and g.10196A>G). We have expressed in bacterial cells the recombinant proteins corresponding to the g.6846T>C (p.I74T), g.10236G>T (p.V222F), and g.10258T>C (p.L229P) natural mutants to study their effect on aldolase B function and structure. All the new variants were insoluble; molecular graphics data suggest this is due to impaired folding.

PMID:: 15532022; [PubMed - indexed for MEDLINE]

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Fructose-Bisphosphate Aldolase

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Cited by 2 PubMed Central articles

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. [J Inherit Metab Dis. 2010]
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
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Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. [J Inherit Metab Dis. 2010]
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
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