Maturity-onset diabetes of the young type 3 caused by genetic mutation of hepatocyte nuclear factor-1α: One family report / 中华内分泌代谢杂志

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.