Korean J Endocr Surg.  2014 Mar;14(1):7-11.

Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review

• Lee SC
• Min JW
• Kim YM
• Chang MC

Abstract

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 summarize 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.

Keyword

Multiple endocrine neoplasia type 1; Germ-line mutation

MeSH Terms

Codon, Nonsense
Diagnosis
Frameshift Mutation
Genetic Counseling
Genetic Testing
Germ-Line Mutation
Humans
Korea
Multiple Endocrine Neoplasia Type 1*
Mutation, Missense
Pedigree
Codon, Nonsense