Improving HNF1β mutation detection rates: can a weighted score of clinical and familial characteristics help?
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 25360493.
- Also identified by DOI 10.1038/ki.2014.245.
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Abstract
Maturity-onset diabetes of the young type 5 (MODY5) presents with incomplete penetrance and phenotypic heterogeneity, often resulting in misdiagnosis with other renal disorders. Hence, HNF1β mutation detection rates in MODY5-like patients are low (∼15%) and standards for mutation analysis are lacking. Faguer et al. established a composite score evaluating the most frequent and specific features of MODY5. Further, they tested an algorithm that provides a rational for genetic testing and improves HNF1β mutation detection rates.
Medical subject headings
- DNA Mutational Analysis
- Decision Support Techniques
- Hepatocyte Nuclear Factor 1-beta
- Kidney Diseases
- Mutation
- Patient Selection