Contiguous gene deletion in HFE2 region (1q21.1) and pathogenic HFE2 mutations in a Chinese hereditary hemochromatosis patient

被引：0

作者：

Wang, Yongwei ^{[1
,2
]}

Du, Yali ^{[3
,4
]}

Liu, Gang ^{[2
,5
]}

Guo, Shanshan ^{[2
]}

Yang, Na ^{[2
]}

Hou, Bo ^{[4
,6
]}

Jiang, Xianyong ^{[3
,4
]}

Han, Bing ^{[3
,4
]}

Chang, Yanzhong ^{[1
]}

Nie, Guangjun ^{[2
]}

机构：

[1] Hebei Normal Univ, Coll Life Sci, Lab Mol Iron Metab, Shijiazhuang 050024, Hebei, Peoples R China

[2] Natl Ctr Nanosci & Technol, CAS Ctr Excellence Nanosci, CAS Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R China

[3] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Hematol, Beijing, Peoples R China

[4] Peking Union Med Coll, Beijing, Peoples R China

[5] NICHHD, Sect Human Iron Metab, NIH, Bethesda, MD 20892 USA

[6] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Radiol, Beijing 100730, Peoples R China

来源：

GENE REPORTS | 2016年 / 5卷

关键词：

Hereditary hemochromatosis; Chinese patients; Pathogenic mutations; Contiguous gene deletion; Hemojuvelin;

D O I：

10.1016/j.genrep.2016.10.010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Juvenile hemochromatosis is caused by the defects of HFE2 gene, located on chromosome 1q with clinical manifestations of iron overload and affected organ damage before adulthood. The present study reports a Chinese juvenile hemochromatosis patient with severe iron overload and unique genetic defects. Gene sequencing results revealed amissensemutation (Q6H) and a nonsense mutation (C321X) in the HFE2 gene of the proband and his father, while another missense mutation (E3D) was identified in his mother. In addition, a gross deletion (about 400 kilobasepairs) was demonstrated in the other HFE2 allele of the proband. We conclude that the gross deletion, combined with the two deleterious point mutations, resulted in a severe hemochromatosis phenotype in the patient. (C) 2016 Elsevier Inc. All rights reserved.

引用

页码：167 / 170

页数：4

共 10 条

[1]

Abeysinghe SS, 2006, GENOME DYN, V1, P17, DOI 10.1159/000092498

[2] Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease [J].