Korean J Otolaryngol-Head Neck Surg.  2005 Mar;48(3):347-351.

Menin Mutational Analysis in a MEN I Family

• Lee KD
• Kim JY
• Mun HS
• Choi SH
• Lee HH
• Choi YS
• Park YH
• Uchino S

Abstract

BACKGROUND AND OBJECTIVES
MEN I is an autosomal dominant disorder characterized by multiple tumors occurring in the parathyroid, pituitary, and pancreas. There is a variety of mutations in MEN I that are scattered throughout the coding region, thus MEN I family has its unique type of mutations. The aim of this study is to investigate the significance of genetic screening via analyzing the MEN I gene in the MEN I family. SUBJECTS AND METHOD: Three family members related to MEN I were involved for studying the MEN I gene mutation by using single strand conformational polymorphism and DNA sequence analysis of the coding region and the exon-intron boundaries of the MEN I gene. RESULTS: A specific germline mutation of 1023 a to g transition at the splice acceptor site of exon 7 was identified in all three members of the family in the direct sequence analysis of MEN I gene. CONCLUSION: Genetic analysis for mutations in the MEN I family allows identification of individuals predisposed to the disease and enables an early diagnosis and more complete management. Also, this new diagnostic approach is helpful not only in genetic counselling of clinical management of the MEN I families but also in reducing health care expenses and psychological burden of the diseases.

Keyword

Multiple endocrine neoplasia type I (MEN I); Mutational analysis; PCR

MeSH Terms

Clinical Coding
Delivery of Health Care
Early Diagnosis
Exons
Genetic Testing
Germ-Line Mutation
Humans
Male
Multiple Endocrine Neoplasia Type 1*
Pancreas
Polymerase Chain Reaction
RNA Splice Sites
Sequence Analysis
Sequence Analysis, DNA
RNA Splice Sites