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.

Table 2 Paraclinical studies of the patient with diabetes maturity-onset diabetes of the young type

Clinical laboratories	Results	Reference values (adults, conventional units)
Glycosylated hemoglobin	6.8%	4.0%-5.6% (normal); 5.7%-6.4% (prediabetes); ≥ 6.5% (diabetes)
Creatinine	0.97 mg/dL	0.6-1.3 mg/dL (women: 0.6-1.1 mg/dL, men: 0.7-1.3 mg/dL)
Urea nitrogen	24.3 mg/dL	7-20 mg/dL
Total cholesterol	181 mg/dL	< 200 mg/dL (desirable); 200-239 mg/dL (borderline); ≥ 240 mg/dL (high)
LDL cholesterol	95.6 mg/dL	< 100 mg/dL (optimal); 100-129 mg/dL (near optimal); ≥ 130 mg/dL (elevated)
HDL cholesterol	60 mg/dL	> 40 mg/dL (men); > 50 mg/dL (women); ≥ 60 mg/dL (cardioprotective)
Ionic calcium	1.3 mmol/L	1.12-1.32 mmol/L
C-peptide	3.48 ng/mL	0.8-3.1 ng/mL (fasting)
Anti-insulin, anti-islet, anti-GAD antibodies	Negative	Anti-insulin antibodies, negative, < 0.4 U/mL. Islet cell antibodies, negative, titer < 1:4; Anti-GAD antibodies, negative, < 5 U/mL

LDL: Low-density lipoprotein; HDL: High-density lipoprotein; GAD: Glutamic acid decarboxylase.