Abstract

Background: Krüppel-like 11 factor (KLF11) gene mutation has been implicated in the pathogenesis of maturity onset diabetes of the young type 7 (MODY7). Recently, this potential correlation has been questioned, suggesting the need for more comprehensive diagnostic approaches.
Methods: The proband is a 30-years-old male who underwent next-generation sequencing (NGS). This was followed by whole-exon sequencing of the proband and his parents to screen for KLF11 variants.
Results: A heterozygous KLF11 mutation c.793G>A (p.Glu265Lys) was identified in the proband and his non-diabetic mother.
Conclusions: The novel KLF11 mutation documented in this study might exhibit incomplete penetrance in relation to impaired glucose tolerance, which could also contribute to the argument against the necessity of including KLF11 genetic testing for MODY diagnosis.

DOI: 10.7754/Clin.Lab.2024.240241