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CASE REPORT article
Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 15 - 2024 |
doi: 10.3389/fendo.2024.1467882
This article is part of the Research Topic Insights in Pediatric Endocrinology: 2024 View all 9 articles
Novel Germline c.587delA Pathogenic Variant in Familial Multiple Endocrine Neoplasia Type 1
Provisionally accepted- 1 School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan Province, China
- 2 Department of Endocrinology and Metabolism, West China School of Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
- 3 School of Biological Sciences and Technology, Chengdu Medical College, Chengdu, Sichuan, China
- 4 Department of Geriatric Endocrinology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan Province, China
- 5 Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China
- 6 Key Laboratory of Birth Defects and Related Diseases of Women and Children, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare genetic disease, characterized by co-occurrence of several lesions of the endocrine system.In MEN1, the pathogenic MEN1 gene mutations lead to the Abnormal expression of menin, a critical tumor suppressor protein. We here reported a case of a 14-year-old male with insulinoma and primary hyperparathyroidism. Genetic testing demonstrated a novel heterozygote variant c.587delA of MEN1, resulting in the substitution of the 196th amino acid, changing from glutamic acid to glycine, followed by a frameshift translation of 33 amino acids. An identical variant was identified in the proband's father, who was further diagnosed with hyperparathyroidism. To the best of our knowledge, this is the first report of MEN1 syndrome caused by the c.587delA MEN1 variant. Observations indicated that, despite sharing the same MEN1 gene change, family members exhibited diverse clinical phenotypes. This underscored the presence of genetic anticipation within the familial context.
Keywords: Multiple Endocrine Neoplasia Type 1, MEN1 gene, menin, Pathogenic variant, Pediatric Endocrinology
Received: 21 Jul 2024; Accepted: 27 Aug 2024.
Copyright: © 2024 Huang, Li, Zhang, Tang, Zhang, Fan, Wang and Yaoxia. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Tao Wang, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China
Liu Yaoxia, Department of Geriatric Endocrinology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, 611731, Sichuan Province, China
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