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Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity

Meihang Li1,2,3,4, Natalija Popovic5, Ying Wang6

  • 1College of pharmacy, Jinan University, 601 Huangpu Avenue West, Guangzhou, Guangdong, China. limeihang@163.com.

Reviews in Endocrine & Metabolic Disorders
|May 10, 2023
PubMed

Insights

Accurate diagnosis of Monogenic Forms of Diabetes (MFD) can change patient treatment. Understanding genetic factors influencing MFD penetrance and expressivity offers insights into diabetes mechanisms and new therapies.

Area of Science:

  • Genetics
  • Endocrinology
  • Medical Genetics

Background:

  • Monogenic Forms of Diabetes (MFD) represent approximately 3% of all diabetes cases.
  • MFD diagnosis is crucial for effective therapeutic redirection.
  • Reduced penetrance and variable expressivity complicate MFD diagnosis and management, similar to other Mendelian diseases.

Purpose of the Study:

  • To review penetrance and expressivity variations in MFD.
  • To identify factors contributing to these variations.
  • To explore the therapeutic and mechanistic insights gained from studying these variations.

Main Methods:

  • Literature search of PubMed, Medline, and Embase databases.
  • Inclusion of papers published between 1974 and 2023.
  • Data compilation from literature, OMIM, Clinvar, and 1000 Genomes browser.

Main Results:

  • MFD exhibits reduced penetrance and variable expressivity, impacting symptom onset and severity.
  • Genetic modifiers play a role in the variability of MFD presentation.
  • Studying these variations can reveal protective genetic variants.

Conclusions:

  • Understanding MFD variability is key to improving patient care.
  • Identifying genetic modifiers can inform strategies for common diabetes forms.
  • Further research into MFD variability may uncover novel therapeutic targets.
Keywords:
Genetic modifierMODYMonogenic forms of diabetesNeonatal diabetesPenetrance

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