{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Cheng Z"],"pubmed_abstract":["Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate synthase 1 (<i>ASS1</i>), and citrin (<i>SLC25A13</i>) gene mutations, respectively. In this study, we performed genetic analysis on nine Chinese infants with citrullinemia using next-generation sequencing, which identified a novel mutation (p.Leu313Met) and a rare mutation (p.Thr323Ile, rs1250895424) of <i>ASS1</i>. We also found a novel splicing mutation of <i>SLC25A13</i>: c.1311 + 4_+7del. Functional analysis of the <i>ASS1</i> missense mutations showed that both significantly impaired the enzyme activity of ASS1, with the p. Thr323Ile"],"journal":["Frontiers in genetics"],"pagination":["783799"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8929347"],"repository":["biostudies-literature"],"pubmed_title":["Identification of Novel Mutations in Chinese Infants With Citrullinemia."],"pmcid":["PMC8929347"],"pubmed_authors":["Liu H","Xu ZE","Li C","He X","Zou F","Miao J","Cheng Z"],"additional_accession":[]},"is_claimable":false,"name":"Identification of Novel Mutations in Chinese Infants With Citrullinemia.","description":"Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate synthase 1 (<i>ASS1</i>), and citrin (<i>SLC25A13</i>) gene mutations, respectively. In this study, we performed genetic analysis on nine Chinese infants with citrullinemia using next-generation sequencing, which identified a novel mutation (p.Leu313Met) and a rare mutation (p.Thr323Ile, rs1250895424) of <i>ASS1</i>. We also found a novel splicing mutation of <i>SLC25A13</i>: c.1311 + 4_+7del. Functional analysis of the <i>ASS1</i> missense mutations showed that both significantly impaired the enzyme activity of ASS1, with the p. Thr323Ile","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-03-18T13:41:27.011Z","creation":"2025-04-04T12:43:44.551Z"},"accession":"S-EPMC8929347","cross_references":{"pubmed":["35309121"],"doi":["10.3389/fgene.2022.783799"]}}