Novel Kruppel-like factor 11 variant of maturity-onset diabetes of the young type 7: A case report
Year: 2025
Type: article
Study design: Case Report
Abstract: BACKGROUND Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes often misdiagnosed as type 1 or type 2. The MODY7 subtype, attributed to variants in the Kruppel-like factor 11 (KLF11 ) gene, is exceedingly rare, and its clinical spectrum is not fully characterized. Precise genetic diagnosis is essential for appropriate management but is challenging due to phenotypic overlap with other diabetes types. This case report describes a patient with a novel KLF11 variant, contributing to the understanding of this rare condition and its clinical implications. CASE SUMMARY A 50-year-old female with a family history of MODY in her son was initially diagnosed with type 2 diabetes. Due to the family history and a non-obese phenotype, a comprehensive genetic panel for monogenic diabetes was performed. The analysis identified a novel heterozygous missense variant, p.Cys105Phe, in the KLF11 gene, establishing a definitive diagnosis of MODY7. Following this diagnosis, the patient’s treatment was adjusted to include lifestyle modifications, resulting in adequate glycemic control. The patient has since maintained target glycated hemoglobin levels. CONCLUSION Monogenic diabetes type MODY7, caused by a mutation in the KLF11 gene, is extremely rare. Although some studies question its existence, compatible cases continue to be diagnosed, given its inclusion in genetic panels for MODY.
Source: World Journal of Diabetes
Authors: Mauricio Alvarez, Elias Quintero, Oswaldo Rincon, Carlos Llanos, Rawdy Reales, Isaac Guzman
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4416235301