Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).
Jana Zídková, Dagmar Procházková, Petra Konečná et al.
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Case in brief
A three-year-old girl presented with attenuated protein-losing enteropathy and was found to carry compound-heterozygous missense variants in PLVAP. Each variant was inherited from an unaffected parent; the parents were not consanguineous. The authors considered the findings consistent with DIAR10 and supportive of residual PLVAP function in association with missense variants. The report adds to the described genetic and clinical spectrum of this condition.
What made this case unusual
The attenuated presentation was associated with compound-heterozygous PLVAP missense variants, with each unaffected parent carrying one variant.
Diagnostic / clinical pearl
In a child with attenuated protein-losing enteropathy, compound-heterozygous PLVAP missense variants may support a diagnosis of DIAR10; inheritance from unaffected parents is compatible with this reported case.
Why it matters
The case broadens the reported genetic and clinical spectrum of DIAR10 and supports residual PLVAP function as an explanation for an attenuated phenotype.