Novel 14 base-pair deletion of the MEN1 gene in a patient with recurrent primary hyperparathyroidism.
MEN1 is the causative gene for multiple endocrine neoplasia type 1 (MEN1), a hereditary syndrome characterized by hyperplastic and neoplastic disorder of endocrine organs such as parathyroid, anterior pituitary and gastroenteropancreatic endocrine tissues. More than 300 germline mutations have already been reported in patients with MEN1. We here report a novel deletional mutation identified in a Japanese woman with apparently sporadic recurrent hyperparathyroidism. Genetic testing revealed a heterozygous deletion involving 14 bp in exon 6 (starting at amino acid codon 293) of MEN1, which results in early termination of the protein. This deletional mutation has not previously been described elsewhere.
Katai
Miyuki
M
Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
Sakurai
Akihiro
A
Uchino
Shinya
S
Minemura
Kesami
K
Hashizume
Kiyoshi
K
Fukushima
Yoshimitsu
Y
D020029:Base Pairing; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis; D049950:Hyperparathyroidism, Primary / Q000235:genetics*; D006965:Hyperplasia; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D010280:Parathyroid Glands / Q000473:pathology*; D016105:Parathyroidectomy; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012008:Recurrence
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins