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Novel 14 base-pair deletion of the MEN1 gene in a patient with recurrent primary hyperparathyroidism.
Jpn J Clin Oncol. 2006 Jun; 36(6):395-7.JJ

Abstract

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.

Authors+Show Affiliations

Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16714299

Citation

Katai, Miyuki, et al. "Novel 14 Base-pair Deletion of the MEN1 Gene in a Patient With Recurrent Primary Hyperparathyroidism." Japanese Journal of Clinical Oncology, vol. 36, no. 6, 2006, pp. 395-7.
Katai M, Sakurai A, Uchino S, et al. Novel 14 base-pair deletion of the MEN1 gene in a patient with recurrent primary hyperparathyroidism. Jpn J Clin Oncol. 2006;36(6):395-7.
Katai, M., Sakurai, A., Uchino, S., Minemura, K., Hashizume, K., & Fukushima, Y. (2006). Novel 14 base-pair deletion of the MEN1 gene in a patient with recurrent primary hyperparathyroidism. Japanese Journal of Clinical Oncology, 36(6), 395-7.
Katai M, et al. Novel 14 Base-pair Deletion of the MEN1 Gene in a Patient With Recurrent Primary Hyperparathyroidism. Jpn J Clin Oncol. 2006;36(6):395-7. PubMed PMID: 16714299.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel 14 base-pair deletion of the MEN1 gene in a patient with recurrent primary hyperparathyroidism. AU - Katai,Miyuki, AU - Sakurai,Akihiro, AU - Uchino,Shinya, AU - Minemura,Kesami, AU - Hashizume,Kiyoshi, AU - Fukushima,Yoshimitsu, Y1 - 2006/05/19/ PY - 2006/5/23/pubmed PY - 2006/9/16/medline PY - 2006/5/23/entrez SP - 395 EP - 7 JF - Japanese journal of clinical oncology JO - Jpn J Clin Oncol VL - 36 IS - 6 N2 - 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. SN - 0368-2811 UR - https://www.unboundmedicine.com/medline/citation/16714299/Novel_14_base_pair_deletion_of_the_MEN1_gene_in_a_patient_with_recurrent_primary_hyperparathyroidism_ L2 - https://academic.oup.com/jjco/article-lookup/doi/10.1093/jjco/hyl023 DB - PRIME DP - Unbound Medicine ER -