Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of <i>PGAP2</i> Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

ABSTRACT: Glycosylphosphatidylinositols (GPIs) anchor over 150 proteins as GPI-anchored proteins (GPI-APs) with crucial roles in diverse biological processes. The highly conserved biosynthesis of GPI-APs involves precise steps with at least 21 genes, categorized as PIG and PGAP genes. Pathogenic variants in these genes are linked to human diseases, highlighting the importance of each biosynthesis step. PGAP2 stands out among these genes due to its association with an expanded clinical spectrum of neurodevelopmental disorder (NDD) phenotypes with biallelic pathogenic variants. We present four patients from two families, one consanguineous and the other nonconsanguineous, each displaying distinct clinical presentations, including intellectual disability, hyperphosphatasia, hearing

SUBMITTER: Susgun S 

PROVIDER: S-EPMC11919034 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature