ArticleJournal of clinical laboratory analysis2020
Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.
Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools.Molecular genetics and metabolism reports · 2025Article
- Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency.BMC pediatrics · 2024Article
- Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.BMC medical genomics · 2023Review
- Stroke-like Episodes in Inherited Neurometabolic Disorders.Metabolites · 2022Review
- New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis.Communications biology · 2021Article
- Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.Journal of cellular and molecular medicine · 2021Article
- Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.Journal of clinical laboratory analysis · 2020Article
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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
backgroundCarbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare urea cycle disorder. The aim of this study was to present the clinical findings, management, biochemical data, molecular genetic analysis, and short-term prognosis of five children with CPS1D.
methodsThe information of five CPS1D patients was retrospectively studied. We used targeted next-generation sequencing to identify carbamoyl phosphate synthetase 1 (CPS1) variants in patients suspected to have CPS1D. Candidate mutations were validated by Sanger sequencing. In silico and structure analyses were processed for the pathogenicity predictions of the identified mutations.
resultsThe patients had typically clinical manifestations and biochemical data of CPS1D. Genetic analysis revealed nine mutations in the CPS1 gene, including recurrence of c.1145C > T, five of which were firstly reported. Seven mutations were missense changes, while the remaining two were predicted to create premature stop codons. In silico and structure analyses showed that these genetic lesions were predicted to affect the function or stability of the enzyme.
conclusionWe reported five cases of CPS1D. Five novel mutations of CPS1 gene were found. Mutations of CPS1 have private nature, and most of them are missense compound heterozygous. The mutation affecting residue predicted to interfere the catalytic sites, the internal tunnel, or the regulatory domain results in severe phenotype.
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