Published online Feb 16, 2023. doi: 10.12998/wjcc.v11.i5.1099
Peer-review started: September 24, 2022
First decision: December 13, 2022
Revised: December 20, 2022
Accepted: January 19, 2023
Article in press: January 19, 2023
Published online: February 16, 2023
Processing time: 143 Days and 3.5 Hours
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 KLF11 gene mutation is the pathogenic gene of MODY7. To date, the clinical and functional characteristics of the novel KLF11 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 KLF11 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 KLF11 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 KLF11 gene c.G31A (p. D11N) is a new mutation site of MODY7. Subsequently, the main treatment included dietary interventions and oral drugs.
Core Tip: We describe a patient with maturity-onset diabetes of the young 7 caused by KLF11 mutation (NM_003597), where the mutation of nucleotide 31 was replaced from guanine to adenine in the coding region, and p.D11N was the mutation of amino acid 11 from aspartic acid to asparagine. Excellent blood glucose control can be achieved by using metformin.