A novel germline mutation of the MEN1 gene, L259del, in a patient with sporadic multiple endocrine neoplasia type 1 (MEN1).
A Japanese woman was treated for insulinoma when she was 29 years old. Ten years later, heperparathyroidism and non-functioning adrenal tumor were found and she was diagnosed as having multiple endocrine neoplasia type 1 (MEN1). No other family members have developed MEN-related lesion(s). Genomic DNA 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.
Hai
N
N
Department of Laboratory Medicine, Kyoto University School of Medicine, Japan.
Muto
G
G
Okamoto
H
H
Tamada
A
A
Abe
R
R
Suzuki
S
S
Kosugi
S
S
D000328:Adult; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins