ArticleAmerican journal of human genetics2012
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
69 citing papers in PubMed, 1 synthesis or guideline pooled it, 124 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Biosynthesis of GPI anchored proteins, its deficiencies and treatment.Journal of human genetics · 2025Review
- Putative role of TMEM165 in congenital cardiomyopathies.Frontiers in molecular neuroscience · 2025Review
- The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.Brain : a journal of neurology · 2024Observational
- The GPI-anchor biosynthesis pathway is critical for syncytiotrophoblast differentiation and placental development.Cellular and molecular life sciences : CMLS · 2024Article
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Ethanolamine-phosphate on the second mannose is a preferential bridge for some GPI-anchored proteins.EMBO reports · 2022Article
- Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.Molecular syndromology · 2022Article
- Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy.Nature communications · 2022Article
- Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.Pediatric dermatology · 2022Article
- Rescue of Glycosylphosphatidylinositol-Anchored Protein Biosynthesis Using Synthetic Glycosylphosphatidylinositol Oligosaccharides.ACS chemical biology · 2021Article
- Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.Frontiers in genetics · 2021Article
- The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.Orphanet journal of rare diseases · 2020Review
- Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Molecular genetics and metabolism · 2020Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Genetics of Inherited Ichthyoses and Related Diseases.Acta dermato-venereologica · 2020Review
- Article
- Biosynthesis and biology of mammalian GPI-anchored proteins.Open biology · 2020Review
- Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.Orphanet journal of rare diseases · 2020Article
- PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
Abstract
CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss. Whole-exome sequencing on five previously reported cases identified PIGL, the de-N-acetylase required for glycosylphosphatidylinositol (GPI) anchor formation, as a strong candidate. Furthermore, cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.