Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

(2018) Alistair T. Pagnamenta et al.   HUMAN MUTATION

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism

(2018) Thi Tuyet Mai Nguyen et al.   HUMAN MUTATION

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

(2017) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

(2017) Devon L. Johnstone et al.   HUMAN MOLECULAR GENETICS

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function

(2017) Jin James Zhao et al.   HUMAN MUTATION

A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model

(2017) Xuan Yuan et al.   PLoS One

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

(2016) Periklis Makrythanasis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mutation inPIGWcauses glycosylphosphatidylinositol deficiency without hyperphosphatasia

(2016) Max Hogrebe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

(2016) Matthias Kettwig et al.   BMC Neurology

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

(2016) Aleksandra Jezela-Stanek et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Rare Noncoding Mutations Extend the Mutational Spectrum in thePGAP3Subtype of Hyperphosphatasia with Mental Retardation Syndrome

(2016) Alexej Knaus et al.   HUMAN MUTATION

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

(2016) Ariana Kariminejad et al.   JOURNAL OF HUMAN GENETICS

Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

(2016) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family

(2016) Muhammad Imran Naseer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

(2016) Nadia Skauli et al.   Genes

Mutations inPIGLin a patient with Mabry syndrome

(2015) Ikuma Fujiwara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Additional evidence thatPGAP1loss of function causes autosomal recessive global developmental delay and encephalopathy

(2015) C. Williams et al.   CLINICAL GENETICS

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

(2015) Daniëlle G M Bosch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

(2015) Nuria C. Bramswig et al.   HUMAN GENETICS

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

(2015) Biljana Ilkovski et al.   HUMAN MOLECULAR GENETICS

Glycosylphosphatidylinositol (GPI) Anchors: Biochemistry and Cell Biology: Introduction to a Thematic Review Series

(2015) Taroh Kinoshita   JOURNAL OF LIPID RESEARCH

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

(2015) M. Granzow et al.   MOLECULAR AND CELLULAR PROBES

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

(2015) Christina Lam et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

(2015) Fanny Kortüm et al.   NATURE GENETICS

The genotypic and phenotypic spectrum of PIGA deficiency

(2015) Maja Tarailo-Graovac et al.   Orphanet Journal of Rare Diseases

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

(2014) Malcolm F. Howard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

(2014) Philippe M. Campeau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

(2014) Bobby G. Ng et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

(2014) Yoshiko Murakami et al.   PLoS Genetics

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

(2013) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

(2013) Lars Hansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT

(2013) P. M. Krawitz et al.   BLOOD

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

(2013) Denise Horn et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

(2013) Tomohiro Chiyonobu et al.   JOURNAL OF MEDICAL GENETICS

The genetic basis of DOORS syndrome: an exome-sequencing study

(2013) Philippe M Campeau et al.   LANCET NEUROLOGY

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

(2013) I. Kuki et al.   NEUROLOGY

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

(2012) Yoshiko Murakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria

(2007) Robert A. Brodsky   BLOOD REVIEWS