Novel Kruppel-like factor 11 variant of maturity-onset diabetes of the young type 7: A case report

Table 1 Reported maturity-onset diabetes of the young type 7 cases and associated Kruppel-like factor 11 variants

Ref.	KLF11 mutation	Amino acid change	Clinical phenotype	Penetrance/notes
Wang et al[11], 2024	c.820C>T	p.Pro274Ser (P274S)	Diabetes mellitus in 2 individuals; hyperinsulinemia in 1 family member	Autosomal dominant inheritance; managed with insulin, acarbose, and oral antidiabetic agents
Song et al[12], 2024	c.793G>A	p.Glu265 Lys (E265K)	Diabetes in 30-year-old male; non-diabetic carrier mother	Suggests incomplete penetrance; raises doubts about clinical relevance of KLF11 in MODY panels
Zhang et al[9], 2023	c.31G>A	p.Asp11Asn (D11N)	Diabetes in 3 family members; impaired glucose tolerance in 1 individual	Confirmed by next-generation sequencing; blood glucose controlled with metformin and dietary intervention
Guan et al[8], 2023	c.193C>A	p.Pro193Thr (P193T)	MODY7 in a three-generation pedigree	Impaired insulin secretion due to disrupted promoter activity; functional impact confirmed in vitro
Wu et al[13], 2022	c.1045C>T	p.Pro349Ser (P349S)	Index patient with diabetes; several non-diabetic relatives carrying the variant	Detected in three generations; incomplete penetrance suggests possible epigenetic or environmental modulation
Sun et al[10], 2021	c.1061G>T	p.Cys354Phe (C354F)	Diabetes at age 23; prediabetes in mother; T2DM in grandfather	Reduced insulin transcription and secretion; functional impairment confirmed in vitro; improved control with sulfonylureas and diet
Ushijima et al[6], 2019	Not codified precisely	p.His418Gln (H418Q)	Early-onset type 1B diabetes (age 1-4); insulin-dependent from diagnosis	Dominant-negative effect; negative for islet autoantibodies; altered transcriptional repression of insulin gene
Neve et al[7], 2005	Various; e.g., c.185A>G	p.Gln62Arg (Q62R)	Multifactorial T2DM; case-control and family studies	Three missense variants associated with early-onset T2DM; functional impairment of βcell proliferation and insulin secretion

KLF11: Kruppel-like factor 11; MODY7: Maturity-onset diabetes of the young type 7; T2DM: Type 2 diabetes mellitus.