{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Burgac E"],"pubmed_abstract":["<h4>Introduction</h4>Hyperphosphatasia with mental retardation syndrome (HPMRS) is characterized by intellectual impairment, seizures, hypotonia, facial dysmorphism, and elevated serum alkaline phosphatase (ALP) level. HPMRS has been linked to mutations in several genes including <i>PGAP2</i> and <i>PGAP3</i>. Here, we report 2 patients of HPMRS3 and HPMRS4 and highlight the genetic and phenotypic diversity of this disorder.<h4>Case reports</h4>Patient 1, a 1-year-old male with developmental delay, generalized tonic-clonic seizures, and dysmorphic facial features, was found to have a pathogenic variant in the <i>PGAP3</i> gene. Patient 2, a 1-year-old female with seizures, hypotonia, joint hypermobility, and facial dysmorphism, was found to have a pathogenic variant in the <i>PGAP2</i> gen"],"journal":["Molecular syndromology"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12503530"],"repository":["biostudies-literature"],"pubmed_title":["A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations."],"pmcid":["PMC12503530"],"pubmed_authors":["Koc Ucar H","Yoldas Celik M","Burgac E","Koseci B"],"additional_accession":[]},"is_claimable":false,"name":"A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations.","description":"<h4>Introduction</h4>Hyperphosphatasia with mental retardation syndrome (HPMRS) is characterized by intellectual impairment, seizures, hypotonia, facial dysmorphism, and elevated serum alkaline phosphatase (ALP) level. HPMRS has been linked to mutations in several genes including <i>PGAP2</i> and <i>PGAP3</i>. Here, we report 2 patients of HPMRS3 and HPMRS4 and highlight the genetic and phenotypic diversity of this disorder.<h4>Case reports</h4>Patient 1, a 1-year-old male with developmental delay, generalized tonic-clonic seizures, and dysmorphic facial features, was found to have a pathogenic variant in the <i>PGAP3</i> gene. Patient 2, a 1-year-old female with seizures, hypotonia, joint hypermobility, and facial dysmorphism, was found to have a pathogenic variant in the <i>PGAP2</i> gen","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jul","modification":"2026-06-04T07:52:09.547Z","creation":"2026-06-01T03:07:10.097Z"},"accession":"S-EPMC12503530","cross_references":{"pubmed":["41064048"],"doi":["10.1159/000547293"]}}