A germline mutation, 1001delC, of the multiple endocrine neoplasia type 1 (MEN 1) gene in a Japanese family.
A germline mutation, 1001delC, of the multiple endocrine neoplasia type 1 (MEN 1) gene in a Japanese family.
复制标题
日本家族中多发性内分泌肿瘤 1 型 (MEN 1) 基因的种系突变 1001delC。
作者：
S. Wada;M. Watanabe;T. Tsukada;S. Yasuda;K. Yamaguchi;S. Kitahama;M. Iitaka;S. Katayama
1 型多发性内分泌肿瘤 (MEN 1) 是一种常染色体显性遗传性疾病，以肠胰腺、甲状旁腺和垂体前叶肿瘤为特征。 MEN 1 基因最近被克隆，并且该基因的种系突变已在 MEN 1 病例中得到证实。在这里，我们报告了一个具有 MEN 1 基因种系突变的日本家庭。先证者（44岁，男性）患有原发性甲状旁腺功能亢进症（PHP）和胰腺类癌，他的姐姐（50岁）有40岁时因原发性甲状旁腺功能亢进症接受甲状旁腺切除术的病史。临床检查未发现他儿子患有PHP或其他MEN 1相关肿瘤的证据。直接测序分析显示，先证者及其儿子的 MEN 1 基因外显子 6 的密码子 297 处存在杂合种系突变 (1001delC)。在先证者切除的甲状旁腺组织中也发现了杂合性丢失（LOH）。在该病例中观察到的胞嘧啶 1001 缺失会引起移码，从而导致在密码子 367 处出现终止密码子 (TAG)。在所研究的病例中，这种突变似乎与内分泌组织的肿瘤有关。
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant inherited disorder characterized by tumors of the enteropancreas, parathyroid and anterior pituitary. The MEN 1 gene was recently cloned, and germline mutations of the gene have been demonstrated in cases of MEN 1. Here, we report a Japanese family with a germline mutation of the MEN 1 gene. The proband (44 y.o., male) had primary hyperparathyroidism (PHP) and pancreatic carcinoid, and his older sister (50 y.o.) had a history of parathyroidectomy for primary hyperparathyroidism at the age of 40. Clinical examination revealed no evidence of PHP or other MEN 1-related tumors in his son. Direct sequencing analysis revealed a heterozygous germline mutation (1001delC) at codon 297 in exon 6 of the MEN 1 gene in the proband and his son. Loss of heterozygosity (LOH) was also found in the resected parathyroid tissue of the proband. The deletion of cytosine 1001 observed in this case induces a frame shift, which causes the appearance of a stop codon (TAG) at codon 367. This mutation appears to be associated with tumors of the endocrine tissues in the cases studied.
自体甲状旁腺移植治疗全身性原发性甲状旁腺增生：散发性增生与 I 型多发性内分泌肿瘤的结果对比。
影响因子：
3.8
作者：
Mallette,LE;Blevins,T;Jordan,PH;Noon,GP
通讯作者：
Noon,GP
DOI：
10.1210/jcem.81.5.8626826
发表时间：
1996-05
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
E. Hsi;L. Zukerberg;W. Yang;A. Arnold
通讯作者：
E. Hsi;L. Zukerberg;W. Yang;A. Arnold
人甲状旁腺腺瘤中新型候选抑癌基因位点的基因组定位。
DOI：
--
发表时间：
1996
期刊：
Cancer research.
影响因子：
--
作者：
Tahara,H;Smith,AP;Gas,RD;Cryns,VL;Arnold,A
通讯作者：
Arnold,A