Clinical characterization and genetic analysis of 5 Chinese families with glucokinase gene mutations
10.3760/cma.j.cn311282-20220125-00057
- VernacularTitle:5个葡萄糖激酶基因突变家系的临床特征与遗传分析
- Author:
Yuansi CHEN
1
;
Mingwei SHAO
;
Gaofei REN
;
Duo CHEN
;
Feng GUO
;
Yanxia LIU
;
Zhizhen LI
;
Liangge SUN
;
Guijun QIN
Author Information
1. 郑州大学第一附属医院内分泌科 450052
- Keywords:
Glucokinase gene;
Maturity-onset diabetes mellitus of the young 2;
Fasting hyperglycemia;
Genetic mutations
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(8):645-650
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1: c.555delT (P.leu186CysFS Ter19) and M3: c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes. Conclusion:Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.
