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

Authors: Esposito, G  Santamaria, R  Vitagliano, L  Ieno, L  Viola, A  Fiori, L  Parenti, G  Zancan, L  Zagari, A  Salvatore, F 
Citation: Esposito G, etal., Hum Mutat. 2004 Dec;24(6):534.
Pubmed: (View Article at PubMed) PMID:15532022
DOI: Full-text: DOI:10.1002/humu.9290

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.

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CRRD Object Information
CRRD ID: 1599063
Created: 2007-01-15
Species: All species
Last Modified: 2007-01-15
Status: ACTIVE



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