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.Pro249Hi...

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Bibliographic Details
Published in:Scandinavian journal of clinical and laboratory investigation 2012-09, Vol.72 (5), p.369-373
Main Authors: Bliksrud, Yngve T., Brodtkorb, Else, Backe, Paul H., Woldseth, Berit, Rootwelt, Helge
Format: Article
Language:English
Subjects:
amino acids
Aminoacid disorders
Base Sequence
Biological and medical sciences
DNA Mutational Analysis
epidemiology
Errors of metabolism
Exons
Female
frameshift mutation
Gastroenterology. Liver. Pancreas. Abdomen
Gene Frequency
Genetic Association Studies
genotype
hepatocellular carcinoma
Humans
Hydrolases - genetics
Inborn errors of metabolism
Incidence
Investigative techniques, diagnostic techniques (general aspects)
liver disease
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
metabolic disease
Metabolic diseases
Models, Molecular
Norway - epidemiology
Protein Structure, Tertiary
Sequence Deletion
single gene disorders
Tumors
Tyrosinemias - enzymology
Tyrosinemias - epidemiology
Tyrosinemias - genetics
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Summary: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.
ISSN:0036-5513
1502-7686
DOI:10.3109/00365513.2012.676210