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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Novel PLVAP Mutation in Protein Losing Enteropathy

Orhan Gorukmez1, Ozlem Gorukmez1, Kaan Demiroren1

  • 1Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.

Fetal and Pediatric Pathology
|June 20, 2019
PubMed

Insights

Genetic mutations in the PLVAP gene cause protein-losing enteropathy (PLE) and Diarrhea 10 (DIAR10). A novel frameshift mutation in PLVAP was identified in a fatal infant PLE case.

Area of Science:

  • Genetics
  • Gastroenterology
  • Molecular Biology

Background:

  • Protein-losing enteropathy (PLE) is a rare disorder characterized by excessive protein loss in the gastrointestinal tract.
  • Diarrhea 10 (DIAR10) is a severe form of PLE linked to genetic mutations.
  • Mutations in the Plasmalemma Vesicle Associated Protein (PLVAP) gene have recently been identified as a cause of DIAR10.

Observation:

  • A case of fatal PLE in an infant is presented.
  • Whole Exome Sequencing (WES) revealed a novel homozygous frameshift mutation (c.339dupT; p.Ala114Cysfs*9) in the PLVAP gene.
  • This mutation resulted in a premature stop codon in exon 1 of PLVAP.

Findings:

  • The identified PLVAP mutation (c.339dupT; p.Ala114Cysfs*9) is novel and has not been previously reported.
  • This represents the fifth reported case of a PLVAP mutation associated with PLE and DIAR10.
  • The findings confirm PLVAP as a critical gene in intestinal barrier function and PLE pathogenesis.

Implications:

  • This study expands the spectrum of known PLVAP mutations causing DIAR10.
  • Understanding the genetic basis of PLE can aid in diagnosis and genetic counseling.
  • Further research into PLVAP function may reveal therapeutic targets for intestinal barrier disorders.

Keywords:
Novel mutationPLEPLVAP

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