N. Hai et al., A novel germline mutation of the MEN1 gene, L259del, in a patient with sporadic multiple endocrine neoplasia type 1 (MEN1), JPN J CLIN, 31(3), 2001, pp. 125-127
A Japanese woman was treated for insulinoma when she was 29 years old. Ten
years later, heperparathyroidism and non-functioning adrenal tumor were fou
nd and she was diagnosed as having multiple endocrine neoplasia type 1 (MEN
1). No other family members have developed MEN-related lesion(s). Genomic D
NA of the patient was analyzed by sequencing for the MEN1 gene and a novel,
three-base in-frame deletion resulting in deletion of an amino acid Leu259
was identified. Her two children showed a wild-type sequence at this codon
.