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CASE REPORT article
Front. Endocrinol.
Sec. Clinical Diabetes
Volume 16 - 2025 |
doi: 10.3389/fendo.2025.1502783
A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome
Provisionally accepted- 1 Department of Health Management Center, Qilu Hospital of Shandong University Dezhou Hospital (Dezhou People’s Hospital), Dezhou, Shandong, China
- 2 Department of General Practice, Qilu Hospital of Shandong University Dezhou Hospital (Dezhou People’s Hospital), Dezhou, Shandong, China
Monogenic diabetes, which encompasses neonatal diabetes (NDM), maturity onset diabetes of the young (MODY), and several diabetes-associated syndromes, primarily arises from impaired function or abnormal development of the islets of Langerhans, particularly pancreatic β-cells responsible for insulin secretion. This condition is typically associated with a single pathogenic genetic mutation. Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary demyelinating neuropathy that is caused by a duplication of the PMP22 gene located on chromosome 17. Herein, we report a case of a young Chinese patient with MODY6 harboring a novel mutation (c. 317C>T, p. Ala106Val) in the NEUROD1 gene. Additionally, this patient concurrently presents with CMT1A, which is characterized by a large segmental duplication within the exon of the PMP22 gene and its adjacent regions. Considering the patient's compromised islet function, we treat him with insulin and oral hypoglycemic agents (metformin, acarbose). This represents the first reported instance of a patient with NEUROD1-MODY coexisting with CMT1A.
Keywords: diabetes, NEUROD1 mutation, MODY6, PMP22, CMT1A
Received: 27 Sep 2024; Accepted: 24 Jan 2025.
Copyright: © 2025 Wang, Wang, Chen, Qi and Wang. 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:
Chunhua Wang, Department of General Practice, Qilu Hospital of Shandong University Dezhou Hospital (Dezhou People’s Hospital), Dezhou, Shandong, China
Yujie Chen, Department of General Practice, Qilu Hospital of Shandong University Dezhou Hospital (Dezhou People’s Hospital), Dezhou, Shandong, China
Shuang Qi, Department of General Practice, Qilu Hospital of Shandong University Dezhou Hospital (Dezhou People’s Hospital), Dezhou, Shandong, China
Min Wang, Department of Health Management Center, Qilu Hospital of Shandong University Dezhou Hospital (Dezhou People’s Hospital), Dezhou, Shandong, China
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