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06 June 2026 : Case report  Kazakhstan

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 3

DOI: 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.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923