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).

Huan Chi,Chun Gan, Yaru Jiang, Dan Chen,Jiawen Qiu,Qing Yang,Yaxi Chen,Mo Wang,Haiping Yang,Wei Jiang,Qiu Li

Molecular genetics & genomic medicine（2023）

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摘要

These observations may provide deeper insights on disease pathogenesis and identify potential therapeutic approaches for HT1 from a genetic perspective. Similarly, we hope to provide valuable information for genetic counseling and prenatal diagnostics.

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关键词

fumarylacetoacetate hydrolase ,chronic kidney disease,hereditary tyrosinemia type 1,mutation,whole exome sequencing

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