ID 113299
Title Alternative
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome
Germline mutation of HRPT2 in patients with hyperparathyroidism
Germline mutation of HRPT2 in patients with HPT
Author
Uchino, Shinya Noguchi Thyroid Clinic and Hospital Foundation
Iwata, Takeo The University of Tokushima KAKEN Search Researchers
Tsuyuguchi, Masaru Tokushima Municipal Hospital
Suzuki, Yasuyo Sapporo Medical University
Mizukoshi, Tsunenori Sapporo Medical University
Yamashita, Yoshio Saga University
Sakurai, Akihiro Shinshu University
Suzuki, Shinichi Fukushima Medical University
Beniko, Mutsuo Kin-ikyo Sapporo Hospital
Tahara, Hideki Osaka City University
Fujisawa, Masato Kawasaki Medical School
Kamata, Nobuyuki Hiroshima University
Fujisawa, Kenji The University of Tokushima KAKEN Search Researchers
Yashiro, Tohru University of Tsukuba
Nagao, Daisuke The University of Tokushima
Golam, Hossain Md. The University of Tokushima
Noguchi, Shiro Noguchi Thyroid Clinic and Hospital Foundation
Keywords
HPT-JT
HRPT2
FIHP
parathyroid tumor
jaw tumor
Content Type
Journal Article
Description
Background
A subset of familial isolated primary hyperparathyroidism (FIHP) is a variant of hyperparathyroidism-jaw tumor syndrome (HPT-JT).
Aim/Patients and Methods
We investigated the involvement of the HRPT2, MEN1, and CASR genes in provisional 11 FIHP families and 2 HPT-JT families.
Results
Germline mutations of HRPT2 were found in 2 of 11 FIHP families and 1 of 2 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 518-521del and 62-66del, respectively. In a patient with HPT-JT, a de novo germline mutation of 39delC was detected. Novel somatic HRPT2 mutations of 70-73del and 95-102del were found in 2 of 5 parathyroid tumors in a family with 518-521del mutation. Biallelic inactivation of HRPT2 by a combination of germline mutation and somatic mutation was confirmed in parathyroid tumors. The finding that 2 families diagnosed with FIHP carried HRPT2 mutations suggests that they have occult HPT-JT. In the remaining 10 families, one family had a missense MEN1 mutation. No mutations of CASR were detected.
Conclusion
Our results confirm the need to test for HRPT2 in FIHP families, especially in those with parathyroid carcinomas, atypical adenomas, or adenomas with cystic change.
Journal Title
Clinical Endocrinology
ISSN
03000664
13652265
NCID
AA00607669
Publisher
John Wiley & Sons
Volume
65
Issue
1
Start Page
9
End Page
16
Published Date
2006-05-25
Rights
This is the peer reviewed version of the following article: Mizusawa N, Uchino S, Iwata T, Tsuyuguchi M, Suzuki Y, Mizukoshi T, Yamashita Y, Sakurai A, Suzuki S, Beniko M, Tahara H, Fujisawa M, Kamata N, Fujisawa K, Yashiro T, Nagao D, Golam HM, Sano T, Noguchi S, Yoshimoto K. Clin Endocrinol. 2006;65:9-16., which has been published in final form at https://doi.org/10.1111/j.1365-2265.2006.02534.x. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
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DOI (Published Version)
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language
eng
TextVersion
Author
departments
Oral Sciences
University Hospital
Medical Sciences