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March 29, 2026JCEM Case ReportsOpen Access

Phenotypic heterogeneity and polygenic risk scores in a family of maturity-onset diabetes of the young

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Authors

WCWaralee ChatchomchuanYTYotsapon ThewjitcharoenSNSoontaree Nakasatien

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Overview

Nonobese Thai man with HNF1A-MODY reveals phenotypic diversity linked to genetic factors in family.

Key Points

  • To explore the relationship between phenotypic heterogeneity, polygenic risk scores, and genetic variants in MODY families.
  • Diagnosis of HNF1A-MODY in a Thai man
  • Assessment of polygenic risk scores across family members
  • Evaluation of genetic variants and clinical risk factors
  • Diagnosis of MODY was established for other family members based on genetic testing
  • Identified phenotypic diversity among family members with T2D
  • Polygenic risk scores varied, influencing diabetes presentations and outcomes.

Cite This Study

Chatchomchuan et al. (2026) studied this question.

synapsesocial.com/papers/69c8c30dde0f0f753b39dac9https://doi.org/10.1210/jcemcr/luag001
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