PGAP1‐Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature

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Case report identifies a novel PGAP1 variant causing encephalopathy in an infant, suggesting implications for genetic testing.

Identified a novel homozygous variant in PGAP1 associated with severe neurodevelopmental disorders, including encephalopathy.
The patient presented with spastic paraplegia features, hepatomegaly, and significant developmental delays at just 9 months old.
Assessment included whole exome sequencing and bioinformatics, uncovering genetic insights into GPI biosynthesis defects and its impacts.
Findings highlight the importance of genetic screening for early diagnosis of rare neurodevelopmental disorders like spastic paraplegia‐67.

Barış et al. (2025) studied this question.

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