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Scand J Clin Lab Invest. 2012 Sep;72(5):369-73. doi: 10.3109/00365513.2012.676210. Epub 2012 May 4.

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

Author information

1
Department of Medical Biochemistry, Rikshospitalet, Oslo University Hospital, University of Oslo, Norway. yngve.thomas.bliksrud@oslo-universitetssykehus.no

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.

PMID:
22554029
DOI:
10.3109/00365513.2012.676210
[Indexed for MEDLINE]

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