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No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1).
Endocr J. 1999 Dec; 46(6):811-6.EJ

Abstract

The MEN1 gene has recently been cloned as the gene responsible for multiple endocrine neoplasia type 1 (MEN1) and its germline mutations have been identified in a number of familial MEN1 patients. However, mutation-negative cases have also been reported in some MEN1 families. We report here a Japanese MEN1 family, including a proband with no evidence of MEN1 gene mutation. The proband (51 y.o., female) had three major MEN1 lesions, including primary hyperparathyroidism (HP), prolactinoma, and pancreatic tumor. Her father and brother had HP, and her daughter had both HP and prolactinoma. When we analyzed the proband for a germline mutation of the MEN1 gene, the direct sequencing analysis showed no mutation in the coding region, on the promoter, 5' and 3' untranslated regions of the MEN1 gene. We next examined the loss of heterozygosity (LOH) in the proband's parathyroid tumors using two benign polymorphisms (C2249G in intron 1 and 2248del3 in exon 10) in the MEN1 gene to detect LOH. LOH was not found in any of the four separate regions of the tumor tissues.

Authors+Show Affiliations

First Department of Internal Medicine, Kagawa Medical University, Japan.No affiliation info availableNo 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

10724357

Citation

Namihira, H, et al. "No Evidence of Germline Mutation or Somatic Deletion of the MEN1 Gene in a Case of Familial Multiple Endocrine Neoplasia Type 1 (MEN1)." Endocrine Journal, vol. 46, no. 6, 1999, pp. 811-6.
Namihira H, Sato M, Matsubara S, et al. No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1). Endocr J. 1999;46(6):811-6.
Namihira, H., Sato, M., Matsubara, S., Ohye, H., Bhuiyan, M., Murao, K., & Takahara, J. (1999). No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1). Endocrine Journal, 46(6), 811-6.
Namihira H, et al. No Evidence of Germline Mutation or Somatic Deletion of the MEN1 Gene in a Case of Familial Multiple Endocrine Neoplasia Type 1 (MEN1). Endocr J. 1999;46(6):811-6. PubMed PMID: 10724357.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1). AU - Namihira,H, AU - Sato,M, AU - Matsubara,S, AU - Ohye,H, AU - Bhuiyan,M, AU - Murao,K, AU - Takahara,J, PY - 2000/3/21/pubmed PY - 2000/4/15/medline PY - 2000/3/21/entrez SP - 811 EP - 6 JF - Endocrine journal JO - Endocr J VL - 46 IS - 6 N2 - The MEN1 gene has recently been cloned as the gene responsible for multiple endocrine neoplasia type 1 (MEN1) and its germline mutations have been identified in a number of familial MEN1 patients. However, mutation-negative cases have also been reported in some MEN1 families. We report here a Japanese MEN1 family, including a proband with no evidence of MEN1 gene mutation. The proband (51 y.o., female) had three major MEN1 lesions, including primary hyperparathyroidism (HP), prolactinoma, and pancreatic tumor. Her father and brother had HP, and her daughter had both HP and prolactinoma. When we analyzed the proband for a germline mutation of the MEN1 gene, the direct sequencing analysis showed no mutation in the coding region, on the promoter, 5' and 3' untranslated regions of the MEN1 gene. We next examined the loss of heterozygosity (LOH) in the proband's parathyroid tumors using two benign polymorphisms (C2249G in intron 1 and 2248del3 in exon 10) in the MEN1 gene to detect LOH. LOH was not found in any of the four separate regions of the tumor tissues. SN - 0918-8959 UR - https://www.unboundmedicine.com/medline/citation/10724357/No_evidence_of_germline_mutation_or_somatic_deletion_of_the_MEN1_gene_in_a_case_of_familial_multiple_endocrine_neoplasia_type_1__MEN1__ L2 - https://joi.jlc.jst.go.jp/JST.Journalarchive/endocrj1993/46.811?from=PubMed DB - PRIME DP - Unbound Medicine ER -