Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene

作者：Bliksrud Yngve T^*; Brodtkorb Else; Backe Paul H; Woldseth Berit; Rootwelt Helge

来源：Scandinavian Journal of Clinical & Laboratory Investigation, 2012, 72(5): 369-373.

DOI：10.3109/00365513.2012.676210

• Inborn errors of metabolism
• metabolic disease
• single gene disorders
• amino acids
• epidemiology
• genotype
• frameshift mutation
• liver disease
• hepatocellular carcinoma

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.Phe205-LeufsX2, 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.

• 出版日期2012-9