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Microvillus Inclusion Disease Caused by MYO5B: Different Presentation and Phenotypes Despite Same Mutation

Bente Utoft Andreassen1, Lise Aunsholt2, Elsebet Østergaard3,4

  • 1From the Department for Children and Adolescent, Rigshospitalet, Copenhagen University Hospital, Denmark.

JPGN Reports
|May 18, 2023
PubMed

Insights

Microvillus inclusion disease (MVID), linked to MYO5B gene variants, can cause varied symptoms from intestinal issues to liver disease and seizures. Early genetic testing is crucial for diagnosing this rare condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Microvillus inclusion disease (MVID) is a rare congenital enteropathy.
  • It is characterized by defects in epithelial cell polarity, often linked to MYO5B gene variants.

Observation:

  • This study details three patients with MYO5B variants, including siblings.
  • Clinical presentations varied widely, encompassing isolated intestinal disease, cholestatic liver disease, seizures, and fractures.

Findings:

  • One novel and two known pathogenic MYO5B variants were identified.
  • Genotype-phenotype correlations were explored, highlighting diverse clinical manifestations.

Implications:

  • MVID can present with diverse phenotypes, mimicking other severe pediatric diseases.
  • Early genetic testing in children with gastrointestinal and cholestatic symptoms is recommended.
Keywords:
MYO5Bchildhoodcholestasismalabsorption

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