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

✍ Scribed by Gabriella Esposito; Rita Santamaria; Luigi Vitagliano; Luigi Ieno; Antonietta Viola; Laura Fiori; Giancarlo Parenti; Lucia Zancan; Adriana Zagari; Francesco Salvatore

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 561 KB
Volume: 24
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9290

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✦ Synopsis

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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