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Peer-reviewedCC BY 4.0Clinical Genetics

Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)

  • Jana Zídková1
  • Dagmar Procházková2
  • Petra Konečná2
  • Kamila Réblová1,3
  • Tereza Kramářová1
  • Johana Kopčilová1
  • Magdaléna Soukup Vodičková1,4
  • Romana Borská1
  • Lenka Fajkusová1,4
4 affiliations
  1. 1Centre of Molecular Biology and Genetics University Hospital Brno and Masaryk University Brno Czech Republic
  2. 2Department of Pediatrics University Hospital Brno and Masaryk University Brno Czech Republic
  3. 3CEITEC ‐ Central European Institute of Technology, Masaryk University Brno Czech Republic
  4. 4National Centre for Biomolecular Research, Faculty of Science Masaryk University Brno Czech Republic
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Abstract

A three‐year‐old girl with attenuated protein‐losing enteropathy carried compound‐heterozygous missense PLVAP variants inherited from unaffected non‐consanguineous parents. The case supports residual PLVAP function in missense‐associated DIAR10 and expands its genetic and clinical spectrum.

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Cite

BibTeXRIS
BibTeX
@article{zidkova2026compoundheterozygous,
  title = {{Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)}},
  author = {Jana Zídková and Dagmar Procházková and Petra Konečná and Kamila Réblová and Tereza Kramářová and Johana Kopčilová and Magdaléna Soukup Vodičková and Romana Borská and Lenka Fajkusová},
  journal = {Clinical Genetics},
  year = {2026},
  month = oct,
  doi = {10.1111/cge.70258},
  url = {https://doi.org/10.1111/cge.70258},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)
AU  - Jana Zídková
AU  - Dagmar Procházková
AU  - Petra Konečná
AU  - Kamila Réblová
AU  - Tereza Kramářová
AU  - Johana Kopčilová
AU  - Magdaléna Soukup Vodičková
AU  - Romana Borská
AU  - Lenka Fajkusová
PY  - 2026
DA  - 2026/10/07
JO  - Clinical Genetics
DO  - 10.1111/cge.70258
UR  - https://doi.org/10.1111/cge.70258
AB  - A three‐year‐old girl with attenuated protein‐losing enteropathy carried compound‐heterozygous missense PLVAP variants inherited from unaffected non‐consanguineous parents. The case supports residual PLVAP function in missense‐associated DIAR10 and expands its genetic and clinical spectrum.
SN  - 0009-9163
SN  - 1399-0004
ER  -