AI Article Synopsis
- MEN 2B is a genetic condition that involves medullary thyroid carcinoma and other tumors, and can be both inherited or arise spontaneously, with about 50% of cases being de novo.
- A specific mutation in the RET gene has been found in patients, and an analysis of 25 de novo cases revealed that all mutations came from the father.
- The findings indicate a potential bias in how the RET gene mutates depending on whether it is inherited from the mother or father, suggesting a role for genetic imprinting in the development of MEN 2B.
Article Abstract
Multiple endocrine neoplasia type 2B (MEN 2B) is characterized by medullary thyroid carcinoma, pheochromocytomas, mucosal neuromas, ganglioneuromas, and skeletal and ophthalmic abnormalities. It is observed as both inherited and sporadic disease, with an estimated 50% of cases arising de novo. A single point mutation in the catalytic core region of the receptor tyrosine kinase, RET, has been observed in germ-line DNA of MEN 2B patients. We have analyzed 25 cases of de novo disease in order to determine the parental origin of the mutated RET allele. In all cases the new mutation was of paternal origin. We observe a distortion of the sex ratio in both de novo MEN 2B patients and the affected offspring of MEN 2B transmitting males. These results suggests a differential susceptibility of RET to mutation in paternally and maternally derived DNA and a possible role for imprinting of RET during development.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918453 | PMC |
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