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p53 유전자의 돌연변이가 발견된 Cowden병

Identification of a Novel p53 Intronic Mutation in Cowden's Disease

백행운|정성해|김지선|김재문|송희정
대한신경과학회 (Korean Neurological Association)|2005.12|대한신경과학회지 (Journal of the Korean Neurological Association)|제23권 제6호|pp. 784-791

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참고문헌

주제분류신경과학

초록

Abstract

Background: Cowden's disease is a rare disorder, characterized by a multiple harmatoma-neoplasia syndrome. Germline mutations in the Phosphatase and Tensin homolog (PTEN) gene have been identified in some individuals with Cowden's disease. The present study aimed to evaluate abnormalities of PTEN and p53 genes in a patient with Cowden's disease. Methods: Eleven family members including the patient with Cowden's disease were examined in this study. Sequencing analyses were performed on these people and on the normal control group to identify mutation in PTEN and p53 genes. Results: DNA sequencing of PTEN gene showed no mutation in the patient and the family members. The G to C germline mutation was identified only in the patient of Cowden disease at 38th base of intron 2 of p53 gene. Conclusions: Although the exact role of mutation in p53 gene was not identified in the Cowden's disease, the conformational change of the gene would result in the dysfunction of the tumor suppressor effect of p53 gene. Otherwise, an epigenetic silencing can be a mechanism of disease development in a patient without genetic abnormality.

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