title: Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.
abstract: 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.Cys326Phe) in the SLC40A1 gene. This is the first report regarding a SLC40A1 mutation in the Chinese Han population and provides novel clinical evidence for the importance of p.Cys326 in SLC40A1 gene function.
authors.affiliation: Department of Infectious Diseases, The Third Affiliated Hospital of Sun-Yat-Sen University, GuangZhou, China.|Key Laboratory of Tropical Disease Control (Sun Yat-Sen University), Ministry of Education, GuangZhou, China.
authors.forename: S-R
authors.initials: SR
authors.lastname: Chen
authors.affiliation: Department of Infectious Diseases, The First People's Hospital of YueYang, YueYang, China.
authors.forename: L-Q
authors.initials: LQ
authors.lastname: Yang
authors.affiliation: Department of Infectious Diseases, The Third Affiliated Hospital of Sun-Yat-Sen University, GuangZhou, China.|Key Laboratory of Tropical Disease Control (Sun Yat-Sen University), Ministry of Education, GuangZhou, China.
authors.forename: Y-T
authors.initials: YT
authors.lastname: Chong
authors.affiliation: Department of Infectious Diseases, The Third Affiliated Hospital of Sun-Yat-Sen University, GuangZhou, China.|Key Laboratory of Tropical Disease Control (Sun Yat-Sen University), Ministry of Education, GuangZhou, China.
authors.forename: Y-S
authors.initials: YS
authors.lastname: Jie
authors.affiliation: Department of Infectious Diseases, The Third Affiliated Hospital of Sun-Yat-Sen University, GuangZhou, China.|Key Laboratory of Tropical Disease Control (Sun Yat-Sen University), Ministry of Education, GuangZhou, China.
authors.forename: Y-K
authors.initials: YK
authors.lastname: Wu
authors.affiliation: Department of Infectious Diseases, The First People's Hospital of YueYang, YueYang, China.
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Infectious Diseases, The Third Affiliated Hospital of Sun-Yat-Sen University, GuangZhou, China.|Key Laboratory of Tropical Disease Control (Sun Yat-Sen University), Ministry of Education, GuangZhou, China.
authors.forename: G-L
authors.initials: GL
authors.lastname: Lin
authors.affiliation: Department of Infectious Diseases, The Third Affiliated Hospital of Sun-Yat-Sen University, GuangZhou, China.|Key Laboratory of Tropical Disease Control (Sun Yat-Sen University), Ministry of Education, GuangZhou, China.
authors.forename: X-H
authors.initials: XH
authors.lastname: Li
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D027682:Cation Transport Proteins / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin
keywords: Chinese; SLC40A1; ferroportin disease; hereditary haemochromatosis type 4; mutation