title: Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.
abstract: Hereditary hemochromatosis is a disorder characterized by enhanced intestinal absorption of dietary iron. Here, we report a heterozygous genotype at two mutation sites in hemojuvelin (HJV) present in two brothers with middle-age-onset hemochromatosis in a Chinese family. To date, only homozygous or compound heterozygous states of HJV gene have been reported as associated with iron overload. However, the patients here were heterozygous for two mutations in one HJV allele in cis: a premature termination mutation (962G>A and 963C>A; C321X) and a mutation in the signal peptide (18G>C; Q6H). Previously unrecognized environmental or other genetic factors may have interacted with the heterozygous genotype in these patients.
authors.affiliation: Key Laboratory of Developmental Genes and Human Disease in Ministry of Education, Department of Biochemistry and Molecular Biology, Medical School of Southeast University, Nanjing, 210009, China, shufengli3000@gmail.com.
authors.forename: Shufeng
authors.initials: S
authors.lastname: Li
authors.forename: Jun
authors.initials: J
authors.lastname: Xue
authors.forename: Baojun
authors.initials: B
authors.lastname: Chen
authors.forename: Qiwei
authors.initials: Q
authors.lastname: Wang
authors.forename: Minke
authors.initials: M
authors.lastname: Shi
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Xie
authors.forename: Liang
authors.initials: L
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D058851:GPI-Linked Proteins / Q000097:blood / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014057:Tomography, X-Ray Computed
chemical_list: D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein