Article
The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Molecular genetics & genomic medicine - 1 Jan 2023
Chi Huan, Gan Chun, Jiang Yaru, Chen Dan, Qiu Jiawen, Yang Qing, Chen Yaxi, Wang Mo, Yang Haiping, Jiang Wei, Li Qiu
Abstract excerpt
BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a rare inherited metabolic disease characterized by severe liver and renal dysfunction. Early identification in affected children is critical for improved treatment options and prognosis. METHODS: In this study, we identified novel compound heterozygous mutations (NM_000137: c.657delC (p.K220Rfs*12) and c.607G>A (p.A203T)) in the fumarylacetoacetate hydrolase...
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