Results 1 to 10 of about 90 (67)

The Role of Pyridoxine Treatment for Seizures in Patients With PGAP3-Congenital Disorders of Glycosylation

Annals of Indian Academy of Neurology
Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare genetic disorder characterized by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies with elevated alkaline phosphatase.
Ilknur Erol, Seyda Besen, Özlem Şangün   +2 more
exaly   +6 more sources

A Case of Inherited Glycosylphosphatidylinositol Deficiency Caused by PGAP3 Variant With Uniparental Isodisomy on Chromosome 17

Molecular Genetics & Genomic Medicine
Background Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disability ...
Takeo Mukai, Hiroki Kitaoka, Atsushi Itô   +2 more
exaly   +4 more sources

PGAP3 Is Expressed at Increased Levels in Asthmatic ASM and Is Associated With Increased ASM Proliferation, Contractility and Expression of GATA3 and ALOX5

PLoS ONE
Post-GPI Attachment to Proteins phospholipase 3 (PGAP3) is a glycosylphosphatidylinositol (GPI) anchor-remodeling gene found on chromosome 17q12-21, which is a locus highly linked to asthma. Genetic association studies have linked PGAP3 SNPs to increased
David H Broide, Taylor A Doherty, Gil-Soon Choi   +2 more
exaly   +4 more sources

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene [PDF]

BMC Cancer, 2021
Background Sinonasal Undifferentiated Carcinoma (SNUC) is a rare and aggressive skull base tumor with poor survival and limited treatment options. To date, targeted sequencing studies have identified IDH2 and SMARCB1 as potential driver alterations, but ...
Molly E. Heft Neal, Andrew C. Birkeland, Apurva D. Bhangale, Jingyi Zhai, Aditi Kulkarni, Susan K. Foltin, Brittany M. Jewell, Megan L. Ludwig, Lisa Pinatti, Hui Jiang, Jonathan B. McHugh, Lawence Marentette, Erin L. McKean, J. Chad Brenner   +13 more
doaj   +7 more sources

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development [PDF]

Cells, 2020
Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare neurological disorder hyperphosphatasia with mental retardation syndrome 4 type (HPMRS4).
Sahar I. Da’as, Waleed Aamer, Waseem Hasan, Aljazi Al-Maraghi, Alya Al-Kurbi, Houda Kilani, Jehan AlRayahi, Khaled Zamel, Mitchell A. Stotland, Khalid A. Fakhro   +9 more
doaj   +3 more sources

Defining the Phenotype of PGAP3-Congenital Disorder of Glycosylation; A Review of 65 Cases

Molecular Genetics and Metabolism, 2023
Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia.
Eva Morava, Maaike C De Vries
exaly   +5 more sources

Hyperphosphatasia With Mental Retardation Syndrome Due to a Novel Mutation in PGAP3 [PDF]

Journal of Pediatric Genetics, 2017
AbstractHyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome sequencing.
Katta Mohan Girisha, Anju Shukla, Sheela Nampoothiri   +2 more
exaly   +3 more sources

Two South African Patients With PGAP3-Related Mabry Syndrome With Unusually Low Alkaline Phosphatase Levels

SAJCH South African Journal of Child Health, 2022
Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disease that is associated with inherited glycosylphosphatidylinositol (GPI) deficiencies. This genetically heterogeneous disorder can be caused by variants in seven genes that encode molecules of the glycosylphosphatidylinositol (
Miles D. Thompson, Xueying Li, Michele Spencer-Manzon, Danielle M. Andrade, Yoshiko Murakami, Taroh Kinoshita, Thomas O. Carpenter   +6 more
exaly   +6 more sources

A Novel PGAP3 Mutation in a Croatian Boy With Brachytelephalangy and a Thin Corpus Callosum [PDF]

Human Genome Variation, 2018
Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a
Naomichi Matsumoto, Noriko Miyake, Tamara Žigman   +2 more
exaly   +8 more sources

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia With Mental Retardation [PDF]

American Journal of Human Genetics, 2014
Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features.
Uwe Kölsch, Taroh Kinoshita, Alistair T Pagnamenta   +2 more
exaly   +5 more sources