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

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

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

Author(s) -

Esposito Gabriella,

Santamaria Rita,

Vitagliano Luigi,

Ieno Luigi,

Viola Antonietta,

Fiori Laura,

Parenti Giancarlo,

Zancan Lucia,

Zagari Adriana,

Salvatore Francesco

Publication year - 2004

Publication title -

human mutation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.981

H-Index - 162

eISSN - 1098-1004

pISSN - 1059-7794

DOI - 10.1002/humu.9290

Subject(s) - aldolase a , biology , aldolase b , missense mutation , genetics , nonsense mutation , gene , mutant , fructose bisphosphate aldolase , mutation , rna splicing , allele , microbiology and biotechnology , biochemistry , enzyme , rna

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. © 2004 Wiley‐Liss, Inc.

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