Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations
BackgroundIn this study, we evaluated the clinical characteristics, prognosis, and gene mutations of five children with citrullinemia type I (CTLN1) diagnosed in our department and identified two novel ASS1 gene mutations.MethodsWe examined the clinical characteristics, prognosis, and gene mutations...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.992156/full |
| _version_ | 1811242875455799296 |
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| author | Mei Xiong Mingwu Chen |
| author_facet | Mei Xiong Mingwu Chen |
| author_sort | Mei Xiong |
| collection | DOAJ |
| description | BackgroundIn this study, we evaluated the clinical characteristics, prognosis, and gene mutations of five children with citrullinemia type I (CTLN1) diagnosed in our department and identified two novel ASS1 gene mutations.MethodsWe examined the clinical characteristics, prognosis, and gene mutations of the five children through data collection, tandem mass spectrometry, and whole-exon sequencing. MutationTaster, regSNP-intron, and SWISS-MODEL were used for bioinformatic analysis to evaluate the two novel gene mutations. We analyzed differences in blood ammonia and citrulline levels based on clinical phenotypes. Finally, we reviewed the medical literature describing Chinese children with CTLN1.ResultsASS1 C773 + 6T > G and c.848 delA as well as c.952_953 del insTT and c.133G > A have not been previously reported in the Human Gene Mutation Database. Using MutationTaster and regSNP-intron, we predicted that these mutations affected protein function. The 3D structure obtained using SWISS-MODEL supported this prediction. Through comparative analysis showed that the ammonia level of the neonatal type was markedly higher than that of other types, whereas citrulline levels did not differ between groups.ConclusionWe identified two novel mutations that cause disease. The blood ammonia level of neonatal form citrullinemia was markedly higher than that of other types. The genotype-phenotype association in Chinese patients remains unclear and should be further evaluated in genetic studies of larger sample sizes. |
| first_indexed | 2024-04-12T13:57:29Z |
| format | Article |
| id | doaj.art-22cc77fe21bb48ac978cd0d5b818aed0 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-12T13:57:29Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-22cc77fe21bb48ac978cd0d5b818aed02022-12-22T03:30:18ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-10-011010.3389/fped.2022.992156992156Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutationsMei XiongMingwu ChenBackgroundIn this study, we evaluated the clinical characteristics, prognosis, and gene mutations of five children with citrullinemia type I (CTLN1) diagnosed in our department and identified two novel ASS1 gene mutations.MethodsWe examined the clinical characteristics, prognosis, and gene mutations of the five children through data collection, tandem mass spectrometry, and whole-exon sequencing. MutationTaster, regSNP-intron, and SWISS-MODEL were used for bioinformatic analysis to evaluate the two novel gene mutations. We analyzed differences in blood ammonia and citrulline levels based on clinical phenotypes. Finally, we reviewed the medical literature describing Chinese children with CTLN1.ResultsASS1 C773 + 6T > G and c.848 delA as well as c.952_953 del insTT and c.133G > A have not been previously reported in the Human Gene Mutation Database. Using MutationTaster and regSNP-intron, we predicted that these mutations affected protein function. The 3D structure obtained using SWISS-MODEL supported this prediction. Through comparative analysis showed that the ammonia level of the neonatal type was markedly higher than that of other types, whereas citrulline levels did not differ between groups.ConclusionWe identified two novel mutations that cause disease. The blood ammonia level of neonatal form citrullinemia was markedly higher than that of other types. The genotype-phenotype association in Chinese patients remains unclear and should be further evaluated in genetic studies of larger sample sizes.https://www.frontiersin.org/articles/10.3389/fped.2022.992156/fullargininosuccinate synthetase genenovel mutationscitrullinemia type Itandem mass spectrometrywhole-exome sequencing |
| spellingShingle | Mei Xiong Mingwu Chen Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations Frontiers in Pediatrics argininosuccinate synthetase gene novel mutations citrullinemia type I tandem mass spectrometry whole-exome sequencing |
| title | Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations |
| title_full | Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations |
| title_fullStr | Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations |
| title_full_unstemmed | Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations |
| title_short | Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations |
| title_sort | citrullinemia type i in chinese children identification of two novel argininosuccinate synthetase gene mutations |
| topic | argininosuccinate synthetase gene novel mutations citrullinemia type I tandem mass spectrometry whole-exome sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.992156/full |
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