Maturity-onset diabetes of the young type 3 caused by genetic mutation of hepatocyte nuclear factor-1α: One family report
10.3760/cma.j.cn311282-20200302-00118
- VernacularTitle:肝细胞核因子1α基因突变致青少年的成人起病型糖尿病3型的家系报道
- Author:
Mingwei SHAO
1
;
Yanling LIU
;
Peijie DU
;
Fang WANG
;
Lin ZHAO
;
Guijun QIN
Author Information
1. 郑州大学第一附属医院内分泌科 450052
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(7):603-606
- CountryChina
- Language:Chinese
-
Abstract:
The study was initiated from a child with diabetes. After we collected his clinical data and traced back his family history of diabetes, a clinical diagnosis of maturity-onset diabetes of the young(MODY)was made. To amplify and sequence the target gene, the genomic DNA was extracted from the anticoagulant blood samples of the patient and his first-degree relatives, revealing a missense mutation(c.779C>T)in exon 4 of hepatocyte nuclear factor-1α in the proband and his father. The above sequencing result confirms the diagnosis of MODY3. During one year follow-up, the proband achieved the strict control of blood glucose with the use of repaglinide and his father got a notable improvement of blood glucose after his drug was shifted to the long-acting sulfonylurea.
