A novel RET proto-oncogene mutation in a pedigree of multiple endocrine neoplasia type 2A
- VernacularTitle:一个多发性内分泌腺瘤病2A型家系新的RET原癌基因突变方式
- Author:
Shaoling ZHANG
;
Yu WENG
;
Li YAN
;
Xiaohua JIANG
;
Feng LI
;
Lihong CHEN
;
Yan LI
;
Hua CHENG
- Publication Type:Journal Article
- Keywords:
Mutiple endocrine neoplasia type 2A;
Pheochromocytoma;
RET proto-oncogene
- From:
Chinese Journal of Endocrinology and Metabolism
2008;24(3):282-286
- CountryChina
- Language:Chinese
-
Abstract:
Objective To observe the clinical manifestation and the mode of RET proto-oncogene mutation in a pedigree of mutiple endocrine neoplasia type 2A (MEN2A). Methods Genomic DNA was extracted from the peripheral blood lymphocytes in 18 family members including 3 patients, then PCR was performed to amplify seven exons of the RET proto-oncogene, i. e. exon 8,10,11,13-16. The PCR products were directly sequenced to identify the RET mutation and then sequenced after subcloning to identify their heterozygosity. Results The male proband suffered from pheochromocytoma and medullary thyroid carcinoma since the age of 30; while his sibling sister was ill with pheochromocytoma, and his brother with medullary thyroid carcinoma. A novel heterozygous mutation, 1893-1895delCGA, was detected in exon 11 of the RET proto-oncogene in the 3 patients and the other 2 family members. Conclusion A novel heterozygous mutation of RET proto-oncogene, 1893-1895delCGA, seems to be the disease-causing mutation in the studied MEN2A family.
