title: Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
abstract: A total of 28 Norwegians have been diagnosed with hereditary tyrosinaemia type I (HT1) over the last 30 years. In this study, 19 of these patients were investigated. Three novel small deletions were found (NM_000137.1(FAH): c.615delT, p.Phe205LeufsX2, NM_000137.1(FAH): c.744delG, p.Pro249HisfsX55 and NM_000137.1(FAH):c835delC) pGln279ArgfsX25, all of them leading to a change in the reading frame and a premature stop codon. We hereby genetically characterized 51 of the 56 disease-causing alleles, identifying nine different disease-causing mutations in the Norwegian population. We found that 65% of the Norwegian HT1 patients are compound heterozygous for different mutations. Thus, the relatively high incidence of HT1 in Norway of 1 in 74,800 live births is not due to single founder effects or high incidence of parental consanguinity.
authors.affiliation: Department of Medical Biochemistry, Rikshospitalet, Oslo University Hospital, University of Oslo, Norway. yngve.thomas.bliksrud@oslo-universitetssykehus.no
authors.forename: Yngve T
authors.initials: YT
authors.lastname: Bliksrud
authors.forename: Else
authors.initials: E
authors.lastname: Brodtkorb
authors.forename: Paul H
authors.initials: PH
authors.lastname: Backe
authors.forename: Berit
authors.initials: B
authors.lastname: Woldseth
authors.forename: Helge
authors.initials: H
authors.lastname: Rootwelt
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D015994:Incidence; D008297:Male; D008958:Models, Molecular; D009664:Norway / Q000453:epidemiology; D017434:Protein Structure, Tertiary; D017384:Sequence Deletion; D020176:Tyrosinemias / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D006867:Hydrolases; C020156:fumarylacetoacetase