A Novel Missense Mutation of the MEN1 Gene in a Patient with Multiple Endocrine Neoplasia Type 1 with Glucagonoma and Obesity

Takaaki Murakami; Takeshi Usui; Akio Nakajima; Yuki Mochida; Sumio Saito; Takuo Nambu; Tomoko Kato; Yuki Matsuda; Shin Yonemitsu; Seiji Muro; Shogo Oki

doi:10.2169/internalmedicine.54.4886

CASE REPORTS

A Novel Missense Mutation of the MEN1 Gene in a Patient with Multiple Endocrine Neoplasia Type 1 with Glucagonoma and Obesity

Takaaki Murakami, Takeshi Usui, Akio Nakajima, Yuki Mochida, Sumio Saito, Takuo Nambu, Tomoko Kato, Yuki Matsuda, Shin Yonemitsu, Seiji Muro, Shogo Oki

Author information

Takaaki Murakami
Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan
Takeshi Usui
Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Japan
Akio Nakajima
Department of Surgery, Osaka Red Cross Hospital, Japan
Yuki Mochida
Department of Surgery, Osaka Red Cross Hospital, Japan
Sumio Saito
Department of Gastroenterology and Hepatology, Osaka Red Cross Hospital, Japan
Takuo Nambu
Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan
Tomoko Kato
Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan
Yuki Matsuda
Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan
Shin Yonemitsu
Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan
Seiji Muro
Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan
Shogo Oki
Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan

Keywords: MEN1, menin, glucagonoma, secondary diabetes mellitus, obesity, missense mutation

JOURNAL OPEN ACCESS

2015 Volume 54 Issue 19 Pages 2475-2481

DOI https://doi.org/10.2169/internalmedicine.54.4886

Details

Abstract

A 35-year-old obese diabetic man presented with recurrent primary hyperparathyroidism during a three-year outpatient follow-up. He was clinically diagnosed with multiple endocrine neoplasia type 1 (MEN1) due to the presence of a pituitary adenoma and multiple glucagonomas. The glucagonomas may have affected his glycemic control. However, he did not demonstrate weight loss, suggesting that the patient's obesity could have obscured the early diagnosis of a glucagonoma. Genetic testing revealed a novel missense mutation at codon 561 in exon 10, resulting in an amino acid substitution from methionine to arginine (M561R) in the MEN1 gene. This mutation appeared to be responsible for the MEN1 pathogenicity.

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