Hereditary fructose intolerance: Frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France—Identification of eight new mutations
Copyright policy )Hereditary fructose intolerance: Frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France—Identification of eight new mutations
We investigated the molecular basis of hereditary fructose intolerance (HFI) in 160 patients from 92 families by means of a PCR-based mutation screening strategy, consisting of restriction enzyme digestion and direct sequencing. Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. As in previous studies, p.A150P (64%), p.A175D (16%) and p.N335K (5%) were the most common mutated alleles, followed by p.R60X, p.A338V, c.360_363delCAAA (p.N120KfsX30), c.324G>A (p.K108K) and c.625-1G>A. Eight novel mutations were also identified in 10 families with HFI: a one-base deletion (c.146delT (p.V49GfsX27)), a small deletion (c.953del42bp), a small insertion (c.689ins TGCTAA (p.K230MfsX136)), one splice site mutation (c.112+1G>A), one nonsense mutation (c.444G>A (p.W148X)), and three missense mutations (c.170G>C (p.R57P), c.839C>A (p.A280P) and c.932T>C (p.L311P)). Our strategy allows to diagnose 75% of HFI patients using restriction enzymatic analysis and to enlarge the diagnosis to 97% of HFI patients when associated with direct sequencing.
Adult, Male, Adolescent, DNA Mutational Analysis, Infant, Newborn, Infant, Fructose Intolerance, Cohort Studies, Child, Preschool, Fructose-Bisphosphate Aldolase, Mutation, Humans, Female, France, Child, Chromosomes, Human, Pair 9
Adult, Male, Adolescent, DNA Mutational Analysis, Infant, Newborn, Infant, Fructose Intolerance, Cohort Studies, Child, Preschool, Fructose-Bisphosphate Aldolase, Mutation, Humans, Female, France, Child, Chromosomes, Human, Pair 9
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