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
Table 2 Genetic interpretation of the HNF1A variant.
| Gene name | HNF1A |
|---|---|
| Genomic change (HGVS) | c.183delC |
| Protein change (HGVS) | p.Asn62fs |
| Variant type | Deletion (frameshift) |
| Inheritance mode | Heterozygous deletion |
| ACMG classification | Likely pathogenic |
| ClinVar status | Not reported in ClinVar (as of January 2025) |
| Associated disorder | MODY3 |
| Disorder inheritance | Autosomal dominant |
| ACMG – American College of Medical Genetics and Genomics; HGVS – Human Genome Variation Society; – hepatocyte nuclear factor 1 alpha; MODY3 – maturity-onset diabetes of the young, type 3. | |