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ID 109767
タイトルヨミ
カゾクセイ フクコウジョウセン キノウ コウシンショウ トシテ シンダン サレタ カケイ ニオケル HRPT2 イデンシ ノ カイセキ
タイトル別表記
Genetic Analyses of HRPT2 Gene in Patients with Familial Isolated Hyperparathyroidism and Hyperparathyroidism-Jaw Tumor Syndrome
著者
水澤, 典子 徳島大学大学院ヘルスバイオサイエンス研究部分子薬理学分野 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キーワード
HRPT2 遺伝子
Familial isolated hyperparathyroidism (FIHP)
hyperparathyroidism-jaw tumor (HPT-JT) syndrome
資料タイプ
学術雑誌論文
抄録
Familial isolated hyperparathyroidism (FIHP) has an estimated frequency of approximately 1% among all cases of primary hyperparathyroidism. FIHP is an autosomal dominant disorder that can result from incomplete expression of a syndromic form of multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2 (MEN2), familial hypocalciuric hypercalcaemia (FHH), hyperparathyroidism-jaw tumor (HPT-JT) syndrome or from still unrecognized causes.
 HPT-JT is predisposed to parathyroid tumors, fibro-osseous lesions of the mandible and maxilla, and renal cysts. Interestingly, it is associated with a high incidence of parathyroid carcinoma in contrast to sporadic and other familial forms of primary hyperparathyroidism. The gene whose inactivation is directly associated with the pathogenesis of HPT-JT syndrome has been identified as the tumor suppressor gene HRPT2. In addition, somatic mutations of HRPT2 have been frequently found in patients with sporadic parathyroid carcinoma.
 We investigated the involvement of the HRPT2, MEN1 and calcium sensing receptor (CASR) genes in 10 provisional FIHP families and two HPT-JT families. Germline mutations of HRPT2 were found in two of the 10 FIHP families and one of the two HPT-JT families. One FIHP family with parathyroid carcinoma and atypical adenomas and another FIHP family with cystic parathyroid adenoma had novel frameshift mutations of c.518-521del and c.62-66del, respectively. In a patient with HPT-JT, a de novo germline mutation of c.39delC was detected. Novel somatic HRPT2 mutations of c.70-73del and c.95-102del were found in two of five parathyroid tumors in a family with a c.518-521del mutation. Biallelic inactivation of HRPT2 by a combination of germline and somatic mutation was confirmed in the parathyroid tumors. The finding that two families diagnosed with FIHP carried HRPT2 mutations suggests that they have occult HPT-JT.
 In conclusion, genetic analysis is important for diagnosing HPT-JT.
掲載誌名
四国歯学会雑誌
ISSN
09146091
cat書誌ID
AN10050046
出版者
四国歯学会
20
2
開始ページ
229
終了ページ
234
並び順
229
発行日
2008-01-31
フルテキストファイル
言語
jpn
著者版フラグ
出版社版
部局
歯学系