单位：[1]Department of Endocrinology, China-Japan Friendship Hospital, No. 2Yinghua East Street, Chaoyang District, Beijing 100029, China[2]Department ofEndocrinology and Metabolism, China Meitan General Hospital, No. 29Xibahe Nanli, Chaoyang District, Beijing 100029, China
Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomyopathy, hypogonadism, and diabetes. Hemojuvelin (HJV) is the causative gene of a rare subtype of HH worldwide. This study aims to systematically review the genotypic and phenotypic spectra of HJV-HH in multiple ethnicities, and to explore the genotype-phenotype correlations. A comprehensive search of PubMed database was conducted. Data were extracted from 57 peer-reviewed original articles including 132 cases with HJV-HH of multiple ethnicities, involving 117 biallelic cases and 15 heterozygotes. Among the biallelic cases, male and female probands of Caucasian ancestry were equally affected, whereas males were more often affected among East Asians (P=1.72x10(-2)). Hepatic iron deposition and hypogonadism were the most frequently reported complications. Hypogonadism and arthropathy were more prevalent in Caucasians than in East Asians (P=9.30x10(-3), 1.69x10(-2)). Among the recurrent mutations, G320V (45 unrelated cases) and L101P (7 unrelated cases) were detected most frequently and restricted to Caucasians. [Q6H; C321*] was predominant in Chinese patients (6 unrelated cases). I281T (Chinese and Greek), A310G (Brazilian and African American), and R385* (Italian and North African) were reported across different ethnicities. In genotype-phenotype correlation analyses, 91.30% of homozygotes with exon 2-3 mutations developed early-onset HH compared to 66.00% of those with exon 4 mutations (P=2.40x10(-2)). Hypogonadism occurred more frequently in homozygotes with missense mutations (72.55%) than in those with nonsense mutations (35.71%; P=2.43x10(-2)). Liver biopsy was accepted by more probands with frame-shift or missense mutations (85.71% and 60.78%, respectively) than by those with nonsense mutations (28.57%; P=2.37x10(-2), 3.93x10(-2)). The present review suggests that patients' ethnicity, geographical region, and genetic predisposition should be considered in the diagnosis, prognosis and management of HJV-HH.
基金：
Ministry of Science and Technology of the People's Republic of ChinaMinistry of Science and Technology, China [2016YFC0901204]
语种：
外文
被引次数：
WOS：
中科院(CAS)分区：
出版当年[2018]版：
大类|2 区医学
小类|3 区遗传学3 区医学：研究与实验
最新[2025]版：
大类|2 区医学
小类|2 区遗传学2 区医学：研究与实验
JCR分区：
出版当年[2017]版：
Q2GENETICS & HEREDITYQ2MEDICINE, RESEARCH & EXPERIMENTAL
最新[2023]版：
Q2GENETICS & HEREDITYQ2MEDICINE, RESEARCH & EXPERIMENTAL
第一作者单位：[1]Department of Endocrinology, China-Japan Friendship Hospital, No. 2Yinghua East Street, Chaoyang District, Beijing 100029, China
通讯作者：
推荐引用方式(GB/T 7714)：
Kong Xiaomu,Xie Lingding,Zhu Haiqing,et al.Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review[J].ORPHANET JOURNAL of RARE DISEASES.2019,14:doi:10.1186/s13023-019-1097-2.
APA：
Kong, Xiaomu,Xie, Lingding,Zhu, Haiqing,Song, Lulu,Xing, Xiaoyan...&Chen, Xiaoping.(2019).Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.ORPHANET JOURNAL of RARE DISEASES,14,
MLA：
Kong, Xiaomu,et al."Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review".ORPHANET JOURNAL of RARE DISEASES 14.(2019)
