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Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry

Kamal Hassan1, Amal Robay2, Aljazi Al-Maraghi3

  • 1Hamad Medical Corporation, Doha, Qatar.

Cold Spring Harbor Molecular Case Studies
|November 24, 2021
PubMed

Insights

Microvillus inclusion disease (MVID) is a rare genetic disorder causing severe infant diarrhea. A novel MYO5B gene mutation was identified in two Syrian families, expanding MVID genotype-phenotype data.

Area of Science:

  • Genetics
  • Gastroenterology
  • Molecular Biology

Background:

  • Microvillus inclusion disease (MVID) is a rare, life-threatening autosomal recessive disorder.
  • It is characterized by absent enterocyte microvilli, leading to severe diarrhea and early mortality.
  • Previous research linked MVID to mutations in the MYO5B gene.

Purpose of the Study:

  • To identify the genetic cause of severe MVID in two unrelated families.
  • To characterize a novel MYO5B gene variant.
  • To expand the genotype-phenotype database for MVID patients, particularly those of Middle Eastern ancestry.

Main Methods:

  • Trio whole-exome sequencing was performed on affected children and their parents.
  • The identified MYO5B variant was analyzed for its novelty and potential founder effect.
  • Clinical histories of the affected patients were detailed.

Main Results:

  • A novel nonsense variant (Glu1589*) in the MYO5B gene was identified in both families.
  • This mutation appears to be a founder mutation, potentially specific to individuals of Syrian ancestry.
  • Detailed clinical data for both patients were documented.

Conclusions:

  • The novel MYO5B variant is associated with severe MVID.
  • This finding highlights the importance of MYO5B in enterocyte development.
  • The study contributes valuable genotype-phenotype information for MVID in the Middle East.
Keywords:
volvulus

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