Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.

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 a novel heterozygous mutation (p. Cys326 Phe) in the SLC40A1 gene. This is the first report regarding a SLC 40 A 1 mutation in the Chinese Han population and provides novel clinical evidence for the importance of p. Cys326 in SLC 40 A 1 gene function. [ABSTRACT FROM AUTHOR]