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Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1.
J Hum Genet. 1999; 44(1):43-7.JH

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors of the parathyroid glands, the pancreatic islet cells, and the anterior pituitary. Germline mutations of the MEN1 gene in three independent Japanese cases with MEN1 were analyzed. Case 1 has revealed a 2-bp (TA) insertion at nucleotide position 341 (341insTA) in exon 2, which shifts the reading frame such that the mutant protein has a completely different amino acid sequence from codon 78 to the premature stop codon at 119. In case 2, a nucleotide substitution, i.e., TAG in place of TGG, which encodes tryptophan at codon 198 was identified (nonsense mutation). These mutations were heterozygously present and have not been reported previously. Case 3 showed no mutations in the protein-coding exons and exon-intron junctions of the MEN1 gene by single-strand conformation polymorphism or direct sequencing of the polymerase chain reaction (PCR) fragments. We confirmed the finding that patients with MEN1 carry heterozygous germline mutations in the MEN1 gene, which is compatible with the idea that the MEN1 gene is a tumor suppressor gene. The reason why mutations in the coding region of the MEN1 gene could not be detected by PCR-based analysis in some of the MEN1 patients, e.g. case 3, needs to be clarified further.

Authors+Show Affiliations

Department of Internal Medicine I, Oita Medical University School of Medicine, Japan. khamaguc@oita-med.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

9929977

Citation

Hamaguchi, K, et al. "Novel Germline Mutations of the MEN1 Gene in Japanese Patients With Multiple Endocrine Neoplasia Type 1." Journal of Human Genetics, vol. 44, no. 1, 1999, pp. 43-7.
Hamaguchi K, Nguyen DC, Yanase T, et al. Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1. J Hum Genet. 1999;44(1):43-7.
Hamaguchi, K., Nguyen, D. C., Yanase, T., Ikuyama, S., Goto, K., Takayanagi, R., Nawata, H., Kusuda, Y., Fukagawa, K., & Sakata, T. (1999). Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1. Journal of Human Genetics, 44(1), 43-7.
Hamaguchi K, et al. Novel Germline Mutations of the MEN1 Gene in Japanese Patients With Multiple Endocrine Neoplasia Type 1. J Hum Genet. 1999;44(1):43-7. PubMed PMID: 9929977.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel germline mutations of the MEN1 gene in Japanese patients with multiple endocrine neoplasia type 1. AU - Hamaguchi,K, AU - Nguyen,D C, AU - Yanase,T, AU - Ikuyama,S, AU - Goto,K, AU - Takayanagi,R, AU - Nawata,H, AU - Kusuda,Y, AU - Fukagawa,K, AU - Sakata,T, PY - 1999/2/4/pubmed PY - 1999/2/4/medline PY - 1999/2/4/entrez SP - 43 EP - 7 JF - Journal of human genetics JO - J Hum Genet VL - 44 IS - 1 N2 - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors of the parathyroid glands, the pancreatic islet cells, and the anterior pituitary. Germline mutations of the MEN1 gene in three independent Japanese cases with MEN1 were analyzed. Case 1 has revealed a 2-bp (TA) insertion at nucleotide position 341 (341insTA) in exon 2, which shifts the reading frame such that the mutant protein has a completely different amino acid sequence from codon 78 to the premature stop codon at 119. In case 2, a nucleotide substitution, i.e., TAG in place of TGG, which encodes tryptophan at codon 198 was identified (nonsense mutation). These mutations were heterozygously present and have not been reported previously. Case 3 showed no mutations in the protein-coding exons and exon-intron junctions of the MEN1 gene by single-strand conformation polymorphism or direct sequencing of the polymerase chain reaction (PCR) fragments. We confirmed the finding that patients with MEN1 carry heterozygous germline mutations in the MEN1 gene, which is compatible with the idea that the MEN1 gene is a tumor suppressor gene. The reason why mutations in the coding region of the MEN1 gene could not be detected by PCR-based analysis in some of the MEN1 patients, e.g. case 3, needs to be clarified further. SN - 1434-5161 UR - https://www.unboundmedicine.com/medline/citation/9929977/Novel_germline_mutations_of_the_MEN1_gene_in_Japanese_patients_with_multiple_endocrine_neoplasia_type_1_ L2 - http://www.diseaseinfosearch.org/result/4954 DB - PRIME DP - Unbound Medicine ER -