06 June 2026
: Case report
Hyperglycemia Due to HNF1A-Mutation-Associated Maturity-Onset Diabetes of the Young (MODY) in a 6-Year-Old Kazakh Girl
Challenging differential diagnosis, Diagnostic / therapeutic accidents, Rare disease
Aiganym B. Toleuzhanova ABCDEF 1*, Elena Zholdybayeva ABCDE 1, Sholpan Eslamgalieva BD 2, Gulnara Svyatova BC 2, Ainash Akhmetollayeva BCD 3DOI: 10.12659/AJCR.951678
Am J Case Rep 2026; 27:e951678
Figure 3 Sanger sequencing confirmation of the HNF1A c.183delC variant in the proband. Sanger sequencing results of the analyzed region. (A) Patient sample showing a deletion of cytosine [C] at chromatogram trace position 151, resulting in a frameshift of downstream nucleotides. (B) Healthy control sample showing the normal sequence without deletion at chromatogram trace position 151. The affected region is indicated by red lines.






