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学科主题: 临床医学
题名:
A novel germline mutation of the MEN1 gene caused multiple endocrine neoplasia type 1 in a Chinese young man and 1 year follow-up
作者: 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
发表日期: 2013-11-01
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60622
Appears in Collections:北京大学第二临床医学院_期刊论文

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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

Recommended Citation:
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.
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