지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 7 - 11 (5page)
이용수
초록· 키워드
오류제보하기
Purpose: Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disease caused by the MEN1 germline mutation. We reviewed previous reports in order to sum-marize the characteristics of germline MEN1 mutation in Korea.Methods: We retrieved the relevant literature regarding MEN1 germline mutation in Korea using the Pubmed (http://www.pubmed.org/) and Koreamed (http://www.koreamed.org/) databases from 2000 to 2012. We evaluated the pedigree of the patients in order to exclude the same, repeated families. We collected all data on the types of mutations and clinical characteristics.Results: There were nine studies with 12 cases of MEN1 mutations in Korea. Two cases were sporadic MEN-1. C.196_200dupAGCCC was reported in three families. There were six cases of frameshift mutation, three cases of missense mutation, two cases of nonsense mutation, and one case of splice site mutation. Five mutations were novel mutations not previously reported.Conclusion: We summarized the characteristics of germline MEN1 mutations in Korea. Genetic testing of MEN1 is rare in Korea; however, it will be useful in preclinical diagnosis and genetic counseling.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Bassett JH / 1998 / Characterization of mutations in patients with multiple endocrine neoplasia type 1 / Am J Hum Genet 62 : 232 ~ 244
Lemos MC / 2008 / Multiple endocrine neoplasia type 1(MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene / Hum Mutat 29 : 22
Park JH / 2003 / Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-relateddisorders / Clin Genet 64 : 48 ~ 53
Romei C / 2012 / Genetic and clinical features of multiple endocrine neoplasia types 1 and 2 / J Oncol 2012 : 705036 ~
den Dunnen JT / 2001 / Nomenclature for the description of human sequence variations / Hum Genet 109 : 121 ~ 124
Lemos MC / 2008 / Multiple endocrine neoplasia type 1(MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene / Hum Mutat 29 : 22
Park JH / 2003 / Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-relateddisorders / Clin Genet 64 : 48 ~ 53
Romei C / 2012 / Genetic and clinical features of multiple endocrine neoplasia types 1 and 2 / J Oncol 2012 : 705036 ~
den Dunnen JT / 2001 / Nomenclature for the description of human sequence variations / Hum Genet 109 : 121 ~ 124
이 논문의 저자 정보
최근 본 자료
댓글(0)
0