Journal Article

A Whole <i>MEN1</i> Gene Deletion Flanked by Alu Repeats in a Family with Multiple Endocrine Neoplasia Type 1

Atsushi Fukuuchi, Yuko Nagamura, Hiroko Yaguchi, Naganari Ohkura, Takao Obara and Toshihiko Tsukada

in Japanese Journal of Clinical Oncology

Volume 36, issue 11, pages 739-744
Published in print November 2006 | ISSN: 0368-2811
Published online September 2006 | e-ISSN: 1465-3621 | DOI: https://dx.doi.org/10.1093/jjco/hyl089
A Whole MEN1 Gene Deletion Flanked by Alu Repeats in a Family with Multiple Endocrine Neoplasia Type 1

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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.

Keywords: multiple endocrine neoplasia type 1; MEN1; deletion; Alu repeat

Journal Article.  3260 words.  Illustrated.

Subjects: Medical Oncology

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