title: Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.
abstract: Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. However, there have been only a few detailed reports of HH in Chinese populations. Thus, there is insufficient patient information for population-based analyses in Chinese populations or comparative studies among different ethical groups. In the current work, we describe eight Chinese cases of hereditary hemochromatosis. Gene sequencing results revealed eight mutations (five novel mutations) in HFE, HFE2, TfR2, and SLC40A1 genes in these Chinese HH patients. In addition, we used Polymorphism Phenotyping v2 (Polyphen), Sorting Intolerant From Tolerant (SIFT), and a sequence alignment program to predict the molecular consequences of missense mutations.
authors.affiliation: Laboratory of Molecular Iron Metabolism, College of Life Science, Hebei Normal University, Shijiazhuang, 050024, Hebei, China.|CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, No. 11 Beiyitiao, Zhongguancun, Beijing, 100190, China.
authors.forename: Yongwei
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
authors.forename: Yali
authors.initials: Y
authors.lastname: Du
authors.affiliation: CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, No. 11 Beiyitiao, Zhongguancun, Beijing, 100190, China.|Section on Human Iron Metabolism, National Institute of Child Health and Human Development, NIH, Bethesda, MD, 20892, USA.
authors.forename: Gang
authors.initials: G
authors.lastname: Liu
authors.affiliation: CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, No. 11 Beiyitiao, Zhongguancun, Beijing, 100190, China.
authors.forename: Shanshan
authors.initials: S
authors.lastname: Guo
authors.affiliation: Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Hou
authors.affiliation: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
authors.forename: Xianyong
authors.initials: X
authors.lastname: Jiang
authors.affiliation: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China. hanbing_li@sina.com.
authors.forename: Bing
authors.initials: B
authors.lastname: Han
authors.affiliation: Laboratory of Molecular Iron Metabolism, College of Life Science, Hebei Normal University, Shijiazhuang, 050024, Hebei, China. chang7676@163.com.
authors.forename: Yanzhong
authors.initials: Y
authors.lastname: Chang
authors.affiliation: CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, No. 11 Beiyitiao, Zhongguancun, Beijing, 100190, China. niegj@nanoctr.cn.
authors.forename: Guangjun
authors.initials: G
authors.lastname: Nie
mesh_terms: D000328:Adult; D044466:Asian People; D027682:Cation Transport Proteins / Q000235:genetics; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein / Q000235:genetics; D006801:Humans; D019190:Iron Overload / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D011990:Receptors, Transferrin / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D058851:GPI-Linked Proteins; C103673:HFE protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D000098742:Ferroportin
keywords: Chinese patients; Hereditary hemochromatosis; Novel mutations