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

Scandinavian Journal of Clinical and Laboratory Investigation
Yngve T BliksrudH Rootwelt

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.

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Citations

Nov 14, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Sadaqat IjazWasim Shehzad
Oct 22, 2019·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Helene BaroneJan Haavik
Aug 25, 2020·International Journal of Neonatal Screening·Jessica R C PriestleyRebecca C Ahrens-Nicklas
Oct 14, 2020·Orphanet Journal of Rare Diseases·Linnea ÄäreläKalle Kurppa

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