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

被引：15

作者：

Bliksrud, Yngve T. ^{[1
]}

Brodtkorb, Else ^{[1
]}

Backe, Paul H. ^{[1
,2
]}

Woldseth, Berit ^{[1
]}

Rootwelt, Helge ^{[1
]}

机构：

[1] Univ Oslo, Rikshosp, Dept Med Biochem, Oslo Univ Hosp, N-0424 Oslo, Norway

[2] Oslo Univ Hosp, Rikshosp, Dept Microbiol, CMBN, Oslo, Norway

来源：

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION | 2012年 / 72卷 / 05期

关键词：

Inborn errors of metabolism; metabolic disease; single gene disorders; amino acids; epidemiology; genotype; frameshift mutation; liver disease; hepatocellular carcinoma; HYDROLASE; IDENTIFICATION; MUTATIONS;

D O I：

10.3109/00365513.2012.676210

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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.

引用

页码：369 / 373

页数：5

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