A report of a national mutation testing service for the MEN1 gene:: clinical presentations and implications for mutation testing
A report of a national mutation testing service for the MEN1 gene:: clinical presentations and implications for mutation testing
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DOI：
10.1136/jmg.2003.017319
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发表时间：
2005-01-01
影响因子：
4
通讯作者：
Prins, JB
中科院分区：
文献类型：
--
作者：
Cardinal, JW;Bergman, L;Prins, JB
简介：MEN1 基因突变检测是诊断和预测患有或将患多发性内分泌肿瘤 1 型 (MEN 1) 个体的有用方法。由于突变分析成本高昂且耗时，因此需要制定临床选择标准来确定应接受检测的患者。这项研究是澳大利亚国家突变检测服务机构对来自经典 MEN 1 和各种 MEN 1 样病症转诊患者的 MEN1 基因的报告。 结果：所有 55 名 MEN1 突变阳性患者都有甲状旁腺功能亢进症家族史，患有另一种 MEN1 相关肿瘤的甲状旁腺功能亢进症，或年轻时患有甲状旁腺功能亢进症伴多发性腺体增生。我们发现了 42 个独立突变和来自无关家族的 6 个重复突变，并有证据表明具有相同突变的 5 个家族存在创始人效应。讨论：我们的结果表明，MEN1 以外的基因突变可能导致家族性孤立性甲状旁腺功能亢进症和家族性孤立性垂体瘤。结论：因此，我们建议对所有“经典”MEN1、家族性甲状旁腺功能亢进症和散发性甲状旁腺功能亢进症病例进行常规种系 MEN1 突变检测，其中一种我们不建议对核苷酸 1234 和 1758 之间的启动子区域（Genbank 登录号 U93237）进行常规测序，因为我们无法在缺乏 MEN1 突变的任何家族性或散发性 MEN1 相关病例中检测到该区域内的任何序列变异。增生。
Introduction: Mutation testing for the MEN1 gene is a useful method to diagnose and predict individuals who either have or will develop multiple endocrine neoplasia type 1 ( MEN 1). Clinical selection criteria to identify patients who should be tested are needed, as mutation analysis is costly and time consuming. This study is a report of an Australian national mutation testing service for the MEN1 gene from referred patients with classical MEN 1 and various MEN 1- like conditions.Results: All 55 MEN1 mutation positive patients had a family history of hyperparathyroidism, had hyperparathyroidism with one other MEN1 related tumour, or had hyperparathyroidism with multiglandular hyperplasia at a young age. We found 42 separate mutations and six recurring mutations from unrelated families, and evidence for a founder effect in five families with the same mutation.Discussion: Our results indicate that mutations in genes other than MEN1 may cause familial isolated hyperparathyroidism and familial isolated pituitary tumours.Conclusions: We therefore suggest that routine germline MEN1 mutation testing of all cases of " classical'' MEN1, familial hyperparathyroidism, and sporadic hyperparathyroidism with one other MEN1 related condition is justified by national testing services. We do not recommend routine sequencing of the promoter region between nucleotides 1234 and 1758 ( Genbank accession no. U93237) as we could not detect any sequence variations within this region in any familial or sporadic cases of MEN1 related conditions lacking a MEN1 mutation. We also suggest that testing be considered for patients < 30 years old with sporadic hyperparathyroidism and multigland hyperplasia.