Homozygous PGAP2 mutation cause hyperphosphatasia with mental retardation syndrome-3 (HPMRS3): Genetic and clinical evaluation of the ultra rare inherited glycosylphosphatidylinositol (GPI) biosynthesis defect
Homozygous PGAP2 mutations in the patient we reported in our study resulted in a severe clinical picture including severe developmental delay and intellectual disability, severe epilepsy, dysmorphic features, central fever, biochemical, hormonal, and immunological abnormalities. This patient would be the youngest case published in the literature. We showed that the instability of mutant PGAP2 protein that causes hyperphosphatasia with mental retardation syndrome-3 leads to more severe phenotypes.
Authors
- Betül Karaatmaca (ORCID: https://orcid.org/0000-0002-8383-6350)
- Berrak Bilginer Gürbüz (ORCID: https://orcid.org/0000-0002-6197-0647)
- Çiğdem Seher Kasapkara (ORCID: https://orcid.org/0000-0002-3569-276X)
- Sümeyra Zeynep Özbey (ORCID: https://orcid.org/0009-0007-7970-1684)
- Aynur Küçükçongar Yavaş (ORCID: https://orcid.org/0000-0002-4766-300X)
- Bora Ergin (ORCID: https://orcid.org/0000-0002-8854-9713)
- Hamìt Özyürek (ORCID: https://orcid.org/0000-0003-4663-7157)
- Ofcan Oflaz (ORCID: https://orcid.org/0000-0002-9549-8213)
- Hacer Basan (ORCID: https://orcid.org/0000-0002-1224-5756)
- Yasemin Ünal (ORCID: https://orcid.org/0000-0002-6110-9558)
Institutions
- Bilkent University (TR)
- Memorial Ankara Hospital (TR)
- Başkent University Hospital (TR)
- Lokman Hekim Üniversitesi (TR)
- Intergen (Turkey) (TR)
- Ankara Bilkent City Hospital (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-26
- DOI
- https://doi.org/10.1159/000542617
- Citations
- 1
- Primary Topic
- Studies on Chitinases and Chitosanases
- Type
- article
- Field-Weighted Citation Impact
- 0.23