Zhang Na, Zhao Hui, Li Cui, Zhang Feng-Zhi
Department of Endocrinology, Liaocheng Third People's Hospital, Liaocheng 252000, Shandong Province, China.
Department of Endocrinology, Binzhou Central Hospital, Binzhou 251700, Shandong Province, China.
World J Clin Cases. 2023 Feb 16;11(5):1099-1105. doi: 10.12998/wjcc.v11.i5.1099.
Maturity-onset diabetes of the young (MODY) is the most common monogenic type of diabetes. Recently, 14 gene mutations have been found to be associated with MODY. In addition, the gene mutation is the pathogenic gene of MODY7. To date, the clinical and functional characteristics of the novel mutation c. G31A have not yet been reported.
We report of a 30-year-old male patient with a one-year history of nonketosis-prone diabetes and a 3-generation family history of diabetes. The patient was found to carry a gene mutation. Therefore, the clinical data of family members were collected and investigated. A total of four members of the family were found to have heterozygous mutations in the gene c. G31A, which resulted in a change in the corresponding amino acid p.D11N. Three patients had diabetes mellitus, and one patient had impaired glucose tolerance.
The heterozygous mutation of the gene c.G31A (p. D11N) is a new mutation site of MODY7. Subsequently, the main treatment included dietary interventions and oral drugs.
青年发病的成年型糖尿病（MODY）是最常见的单基因糖尿病类型。最近，已发现14种基因突变与MODY相关。此外，该基因突变是MODY7的致病基因。迄今为止，新的突变c.G31A的临床和功能特征尚未见报道。
我们报告了一名30岁男性患者，有1年非酮症倾向糖尿病病史及3代糖尿病家族史。该患者被发现携带一种基因突变。因此，收集并调查了家庭成员的临床资料。该家族共有4名成员被发现基因c.G31A存在杂合突变，导致相应氨基酸发生p.D11N改变。3例患者患有糖尿病，1例患者糖耐量受损。
基因c.G31A（p.D11N）的杂合突变是MODY7的一个新突变位点。随后，主要治疗措施包括饮食干预和口服药物。
