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Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease

Mingyue Sun1, Olena Pylypenko2, Zhe Zhou1

  • 1Department of Biomedical Sciences of Cells and Systems, Center for Liver Digestive & Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

Cellular and Molecular Gastroenterology and Hepatology
|February 2, 2024
PubMed

Insights

Microvillus inclusion disease (MVID) is a rare congenital digestive disorder causing severe diarrhea and malabsorption. Recent research links specific gene variants to MVID

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Gastroenterology
  • Rare Diseases

Background:

  • Microvillus inclusion disease (MVID) is a rare, congenital disorder impacting the digestive system, leading to severe diarrhea, malabsorption, and growth failure.
  • Clinical manifestations of MVID are diverse and can be life-threatening.
  • MVID is genetically linked to variants in MYO5B, STX3, STXBP2, or UNC45A genes, which are functionally interconnected in intestinal epithelial cells.

Purpose of the Study:

  • To review and synthesize recent findings on genotype-phenotype correlations in Microvillus inclusion disease (MVID).
  • To highlight connections between specific gene variants and both digestive and extra-intestinal manifestations of MVID.
  • To provide valuable insights for healthcare professionals in managing MVID and offering personalized patient care.

Main Methods:

  • Review of recent clinical data, cell experiments, and animal studies.
  • Analysis of genotype-phenotype correlations in patients with Microvillus inclusion disease.
  • Identification of patterns linking specific gene variants to MVID phenotypes.

Main Results:

  • MVID associated with STXBP2 variants overlaps with familial hemophagocytic lymphohistiocytosis type 5.
  • MVID associated with UNC45A variants is frequently observed in osteo-oto-hepato-enteric syndrome.
  • Variants in MYO5B or STX3 can cause phenotypes overlapping with MVID, indicating complex genetic interactions.

Conclusions:

  • Recent studies reveal significant correlations between MVID genetic variants and specific clinical phenotypes, including those outside the digestive tract.
  • Understanding these genotype-phenotype relationships is crucial for accurate diagnosis and effective management of MVID.
  • This review provides a foundation for personalized care strategies for MVID patients and their families.
Keywords:
MVIDMYO5BMYO5B deficiencyPFIC10cholestasismalabsorptionmicrovillus inclusion disease

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