ArticleFrontiers in genetics2020
Identification of Two Novel Mutations in
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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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.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- The Role and Mechanism of CircCOG5 in Regulating Ferroptosis in Ovarian Cancer Cells by Targeting miR-532-3p/LPCAT3.Biochemical genetics · 2026Article
- Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia.Molecular genetics & genomic medicine · 2026Article
- COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.PLoS genetics · 2026Article
- COG Complex in Golgi Trafficking and Glycosylation.Sub-cellular biochemistry · 2026Review
- Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.Orphanet journal of rare diseases · 2025Article
- Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.Journal of human genetics · 2024Article
- Novel mutation ofMolecular genetics and metabolism reports · 2024Article
- A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.BMC medical genomics · 2022Article
- Screening of theFrontiers in neurology · 2022Article
- Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.Cells · 2021Review
- Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.Molecular genetics & genomic medicine · 2021Review
- Golgi inCOGnito: From vesicle tethering to human disease.Biochimica et biophysica acta. General subjects · 2020Review
- Neonatal presentation of COG6-CDG with prominent skin phenotype.JIMD reports · 2020Article
- COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report.Frontiers in neurologyArticle
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis study reports a Chinese patient with a Congenital Disorder of Glycosylation (CDG) caused by compound-heterozygous mutations in the Conserved Oligomeric Golgi 5 (
methodsThe clinical manifestations, the results of laboratory examinations and genetic analysis of a 4-year-old Chinese girl with CDG are reported. We also reviewed previous CDG cases that involved
resultsThe patient was admitted to our hospital due to ataxia and psychomotor delay. The major clinical manifestations were postural instability, difficulty in walking, psychomotor delay, hypohidrosis, hyperkeratosis of the skin, and ulnar deviation of the right-hand fingers. Biochemical analyses revealed coagulation defect and liver lesions. Vision tests showed choroidopathy and macular hypoplasia. Whole-exome sequencing identified the hitherto unreported compound-heterozygous
conclusionThe clinical manifestations of the patient are mild but consistent with the clinical characteristics of the published COG5-CDG cases. The results of this study extend the spectrum of clinical and genetic findings in COG5-CDG.
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