IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
A novel germline mutation of the MEN1 gene caused multiple endocrine neoplasia type 1 in a Chinese young man and 1 year follow-up
Liu, W.1; Han, X.1; Hu, Z.1; Zhang, X.1; Chen, Y.2; Zhao, Y.3; Ji, L.1
关键词Multiple endocrine neoplasia type 1 MEN 1 Nonsense mutation MEN1 gene
刊名EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
2013-11-01
17期:22页:3111-3116
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Pharmacology & Pharmacy
研究领域[WOS]Pharmacology & Pharmacy
关键词[WOS]GUIDELINES
英文摘要

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant cancer predisposition syndrome which manifests a variety of endocrine and non-endocrine neoplasms and lesions. Because of its complexity in clinical manifestations, it is always difficult to set up the diagnosis in the early stage of the disease.

AIM: Using genetic diagnosis to identify and describe the process of the disease from the very beginning and followed the treatment result in 1 year.

MATERIALS AND METHODS: In this assay, a Chinese young man aged 31 with parathyroid hyperplasia, suspected gastrinoma and an enlarged pituitary with elevated level of prolactin (PRL) and growth hormone (GH) was admitted to our Department ward. We performed genetic analysis in his family and described a new nonsense mutation at codon 308 in exon 6 of the MEN1 gene, where a cytosine residue was exchanged for guanine residue (TCA > TGA), and a termination condon (S308X) occurred. During the 1 year follow up, typical manifestations emerged in this kindred and further confirmed the diagnosis of familial MEN 1.

CONCLUSIONS: We presented a case of MEN 1 from its early stage and followed the progression. Meanwhile, the mutation in this kindred has not been reported and our finding can contribute to better understanding about this disease.

语种英语
WOS记录号WOS:000328085300020
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60622
专题北京大学第二临床医学院
作者单位1.Peking Univ, Dept Endocrinol & Metab, Peoples Hosp, Beijing 100871, Peoples R China
2.Peking Univ, Dept Pathol, Peoples Hosp, Beijing 100871, Peoples R China
3.Peking Univ, Dept Nucl Med, Peoples Hosp, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Liu, W.,Han, X.,Hu, Z.,et al. A novel germline mutation of the MEN1 gene caused multiple endocrine neoplasia type 1 in a Chinese young man and 1 year follow-up[J]. EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES,2013,17(22):3111-3116.
APA Liu, W..,Han, X..,Hu, Z..,Zhang, X..,Chen, Y..,...&Ji, L..(2013).A novel germline mutation of the MEN1 gene caused multiple endocrine neoplasia type 1 in a Chinese young man and 1 year follow-up.EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES,17(22),3111-3116.
MLA Liu, W.,et al."A novel germline mutation of the MEN1 gene caused multiple endocrine neoplasia type 1 in a Chinese young man and 1 year follow-up".EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES 17.22(2013):3111-3116.
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