ArticleVirchows Archiv : an international journal of pathology2018
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Article in Virchows Archiv : an international journal of pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.Orphanet journal of rare diseases · 2025Article
- Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.Italian journal of pediatrics · 2024Article
- Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.BMC pregnancy and childbirth · 2024Article
- Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.Molecular genetics & genomic medicine · 2024Review
- Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.Scientific reports · 2022Article
- A novelThe Journal of international medical research · 2021Article
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.American journal of medical genetics. Part A · 2021Article
- Ornithine Transcarbamylase - From Structure to Metabolism: An Update.Frontiers in physiology · 2021Review
- Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.Orphanet journal of rare diseases · 2020Article
- The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification.Molecular genetics and metabolism reports · 2020Article
- The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.BioMed research international · 2020Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder that causes recurrent and life-threatening episodes of hyperammonemia. The clinical picture in heterozygous females is highly diverse and derives from the genotype and the degree of inactivation of the mutated X chromosome in hepatocytes. Here, we describe molecular genetic, biochemical, and histopathological findings in the livers explanted from two female patients with late-onset OTC deficiency. Analysis of X-inactivation ratios by DNA methylation-based assays showed remarkable intra-organ variation ranging from 46:54 to 82:18 (average 70:30, n = 37), in favor of the active X chromosome carrying the mutation c.583G>C (p.G195R), in the first patient and from 75:25 to 90:10 (average 82:18, n = 20) in favor of the active X chromosome carrying the splicing mutation c.663+1G>A in the second patient. The X-inactivation ratios in liver samples correlated highly with the proportions of OTC-positive hepatocytes calculated from high-resolution image analyses of the immunohistochemically detected OTC in frozen sections that was performed on total area > 5 cm
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