MEN1 935-1GC splicing mutation in an Indian patient with multiple endocrine neoplasia type 1

Background and Objective: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized mainly by multiple tumors involving parathyroid, pancreatic, and pituitary glands. To date, there have been no genetic studies reported on MEN1 in the Indian population. In order to begin to establish molecular diagnosis to improve the management of MEN1 in India, we performed a molecular analysis of the MEN1 gene in a patient of Indian origin. Methods: Molecular analysis of the MEN1 gene was performed to identify mutations in an Indian patient previously diagnosed with sporadic MEN1. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction and screened by direct DNA sequencing. Results: The DNA sequencing results revealed the presence of an intronic, heterozygous, splicing mutation 935-1G>C in intron 5 of the MEN1 gene. Conclusion: This study provides the first data on genetic analysis of MEN1 in Indian patients.