Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family
作者： Shufeng Li , Jun Xue , Baojun Chen , Qiwei Wang , Minke Shi
DOI: 10.1007/S12185-014-1547-5
关键词: Intestinal absorption 、 Allele 、 Heterozygote advantage 、 Biology 、 Hereditary hemochromatosis 、 Hemochromatosis 、 Hemojuvelin 、 Compound heterozygosity 、 Genetics 、 Mutation
摘要: Hereditary hemochromatosis is a disorder characterized by enhanced intestinal absorption of dietary iron. Here, we report heterozygous genotype at two mutation sites in hemojuvelin (HJV) present brothers with middle-age-onset Chinese family. To date, only homozygous or compound states HJV gene have been reported as associated iron overload. However, the patients here were for mutations one allele cis: premature termination (962G>A and 963C>A; C321X) signal peptide (18G>C; Q6H). Previously unrecognized environmental other genetic factors may interacted these patients.
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SG Gehrke, A Pietrangelo, M Kaščák, A Braner, M Eisold, H Kulaksiz, T Herrmann, U Hebling, K Bents, R Gugler, W Stremmel, HJV gene mutations in European patients with juvenile hemochromatosis. Clinical Genetics. ,vol. 67, pp. 425- 428 ,(2005) , 10.1111/J.1399-0004.2005.00413.X
Yin Xia, Jodie L. Babitt, Yisrael Sidis, Raymond T. Chung, Herbert Y. Lin, Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin. Blood. ,vol. 111, pp. 5195- 5204 ,(2008) , 10.1182/BLOOD-2007-09-111567
F. Daraio, E. Ryan, F. Gleeson, A. Roetto, J. Crowe, C. Camaschella, Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient. Blood Cells Molecules and Diseases. ,vol. 35, pp. 174- 176 ,(2005) , 10.1016/J.BCMD.2005.02.001
Laura Silvestri, Alessia Pagani, Claudia Fazi, Gianmario Gerardi, Sonia Levi, Paolo Arosio, Clara Camaschella, Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis Blood. ,vol. 109, pp. 4503- 4510 ,(2007) , 10.1182/BLOOD-2006-08-041004
Chizu KOYAMA, Shinya WAKUSAWA, Hisao HAYASHI, Toshio UENO, Rie SUZUKI, Motoyoshi YANO, Hiroshi SAITO, Toru OKAZAKI, A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron. Internal Medicine. ,vol. 44, pp. 990- 993 ,(2005) , 10.2169/INTERNALMEDICINE.44.990
S. Majore, F. Binni, A. Pennese, A. De Santis, A. Crisi, P. Grammatico, HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis. Human Mutation. ,vol. 23, pp. 400- 400 ,(2004) , 10.1002/HUMU.9232
András Jánosi, Hajnalka Andrikovics, Katalin Vas, András Bors, Márta Hubay, Zoltán Sápi, Attila Tordai, Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy Blood. ,vol. 105, pp. 432- 432 ,(2005) , 10.1182/BLOOD-2004-09-3508
P. Aguilar-Martinez, C. Y. Lok, S. Cunat, E. Cadet, K. Robson, J. Rochette, Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. Haematologica. ,vol. 92, pp. 421- 422 ,(2007) , 10.3324/HAEMATOL.10701
Franklin W. Huang, Isabel Rubio-Aliaga, James P. Kushner, Nancy C. Andrews, Mark D. Fleming, Identification of a novel mutation (C321X) in HJV Blood. ,vol. 104, pp. 2176- 2177 ,(2004) , 10.1182/BLOOD-2004-01-0400
Marco De Gobbi, Antonella Roetto, Alberto Piperno, Raffaella Mariani, Federica Alberti, George Papanikolaou, Marianna Politou, Gillian Lockitch, Domenico Girelli, Silvia Fargion, Thimoty M. Cox, Paolo Gasparini, Mario Cazzola, Clara Camaschella, Natural history of juvenile haemochromatosis. British Journal of Haematology. ,vol. 117, pp. 973- 979 ,(2002) , 10.1046/J.1365-2141.2002.03509.X