Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.
作者： S.-R. Chen , L.-Q. Yang , Y.-T. Chong , Y.-S. Jie , Y.-K. Wu
DOI: 10.1111/IMJ.12764
关键词: Gain of function mutation 、 Mutation (genetic algorithm) 、 Genetics 、 Hereditary haemochromatosis 、 Gene 、 Endocrinology 、 Medicine 、 Skin hyperpigmentation 、 Diabetes mellitus 、 Cirrhosis 、 Transferrin saturation 、 Internal medicine
摘要: Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified novel heterozygous mutation (p.Cys326Phe) in SLC40A1 gene. This is first regarding population provides clinical evidence for importance p.Cys326 gene function.
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