Novel PLVAP Mutation in Protein Losing Enteropathy

Abstract

Introduction: A genetic cause of the protein-losing enteropathy (PLE) disease Diarrhea 10 (DIAR10) are mutations in the recently described PLVAP (plasmalemma vesicle protein). Case report: An infant with fatal PLE had a novel homozygous frameshift mutation (c.339dupT; p.Ala114Cysfs*9) leading to a premature stop codon in exon 1 of the PLVAP (NM_031310) gene detected by Whole Exome Sequencing (WES). Conclusion: The frameshift mutation (PLVAP; c.339dupT; p.Ala114Cysfs*9) we have described in our patient has not been previously reported. This is the fifth case reported with a mutation in PLVAP associated with PLE and DIAR10.

Keywords:

• Novel mutation
• PLE
• PLVAP

Acknowledgments

We thank the parents of our patient for consenting to the publication of this patient.

Conflicts of interest

The authors disclose no conflicts.

Statement of ethics

Molecular genetic studies of the patient were performed in the Medical Genetics Department of Bursa Yüksek Ihtisas Training and Research Hospital with the written consent of the parents of the patient. Informed consent was also obtained from parents of the patient for the publication.

Disclosure statement

The authors have no financial relationships relevant to this article to disclose.