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A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1.
Jpn J Clin Oncol. 2006 Nov; 36(11):739-44.JJ

Abstract

Multiple endocrine neoplasia type 1 is an autosomal dominant cancer syndrome characterized by pituitary, parathyroid and enteropancreatic endocrine tumors, which is caused by germline mutations of the tumor suppressor gene MEN1. In the case reported here, the patient had family with this disease whose germline MEN1 mutation was undetectable by conventional sequencing analysis. Further investigations involving polymorphism analyses, gene dose assay and nucleotide sequencing identified a large germline deletion of approximately 29 kilobase pairs spanning the whole MEN1 gene. The deletion was flanked by Alu repetitive sequences, suggesting unequal homologous recombination as the deletion mechanism. The polymorphism linkage data suggested that an asymptomatic son of the proband did not carry the family mutation. More direct evidence was obtained by gene dose assay and deletion-specific polymerase chain reaction, which demonstrated the normal MEN1 gene dosage and the absence of the deletion breakpoints in this asymptomatic subject and thus definitely excluded the possibility of disease predisposition.

Authors+Show Affiliations

Department of Breast and Endocrine Surgery, Mitsui Memorial Hospital, Tokyo, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17000701

Citation

Fukuuchi, Atsushi, et al. "A Whole MEN1 Gene Deletion Flanked By Alu Repeats in a Family With Multiple Endocrine Neoplasia Type 1." Japanese Journal of Clinical Oncology, vol. 36, no. 11, 2006, pp. 739-44.
Fukuuchi A, Nagamura Y, Yaguchi H, et al. A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1. Jpn J Clin Oncol. 2006;36(11):739-44.
Fukuuchi, A., Nagamura, Y., Yaguchi, H., Ohkura, N., Obara, T., & Tsukada, T. (2006). A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1. Japanese Journal of Clinical Oncology, 36(11), 739-44.
Fukuuchi A, et al. A Whole MEN1 Gene Deletion Flanked By Alu Repeats in a Family With Multiple Endocrine Neoplasia Type 1. Jpn J Clin Oncol. 2006;36(11):739-44. PubMed PMID: 17000701.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1. AU - Fukuuchi,Atsushi, AU - Nagamura,Yuko, AU - Yaguchi,Hiroko, AU - Ohkura,Naganari, AU - Obara,Takao, AU - Tsukada,Toshihiko, Y1 - 2006/09/25/ PY - 2006/9/27/pubmed PY - 2007/1/31/medline PY - 2006/9/27/entrez SP - 739 EP - 44 JF - Japanese journal of clinical oncology JO - Jpn J Clin Oncol VL - 36 IS - 11 N2 - Multiple endocrine neoplasia type 1 is an autosomal dominant cancer syndrome characterized by pituitary, parathyroid and enteropancreatic endocrine tumors, which is caused by germline mutations of the tumor suppressor gene MEN1. In the case reported here, the patient had family with this disease whose germline MEN1 mutation was undetectable by conventional sequencing analysis. Further investigations involving polymorphism analyses, gene dose assay and nucleotide sequencing identified a large germline deletion of approximately 29 kilobase pairs spanning the whole MEN1 gene. The deletion was flanked by Alu repetitive sequences, suggesting unequal homologous recombination as the deletion mechanism. The polymorphism linkage data suggested that an asymptomatic son of the proband did not carry the family mutation. More direct evidence was obtained by gene dose assay and deletion-specific polymerase chain reaction, which demonstrated the normal MEN1 gene dosage and the absence of the deletion breakpoints in this asymptomatic subject and thus definitely excluded the possibility of disease predisposition. SN - 0368-2811 UR - https://www.unboundmedicine.com/medline/citation/17000701/A_whole_MEN1_gene_deletion_flanked_by_Alu_repeats_in_a_family_with_multiple_endocrine_neoplasia_type_1_ L2 - https://academic.oup.com/jjco/article-lookup/doi/10.1093/jjco/hyl089 DB - PRIME DP - Unbound Medicine ER -