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| Analysis of ornithine transcarbamylase gene variation of 1 patient with late-onset ornithine transcarbamylase deficiency |
| The First Affiliated Hospital of Xinjiang Medical University，Urumqi, Xinjiang, 830054 |
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Abstract To analyze the clinical features and ornithine transcarbamylase gene mutation of 1 child with late-onset ornithine transcarbamylase deficiency (OTCD), and to improve the understanding of OTCD disease. Methods: The peripheral blood samples of 1 child with OTCD who had treated in hospital and his parents were collected for whole exome sequencing (WES) by high throughput sequencing on February 23, 2023. The candidate pathogenic variants of OTCD were verified by Sanger sequencing and the structure of the variant protein was analyzed by bioinformatics. Results: This child had A c.356G>A(p.Gly119Asp) variant in exon 4 of OTC gene. According to the variant guidelines of American College of Medical Genetics and Genomics (ACMG), it was considered to be likely the pathogenic variant (PM1+PM2_Supporting+PP3_Strong), and the mutation frequency of which in multiple normal population databases was 0. The OTC gene variant of this child and his parents were verified by Sanger sequencing technique, and the mother had heterozygous mutation identified by the first-generation sequencing technique. Conclusion: OTC gene mutation may be the genetic cause of this child with late-onset OTCD. The discovery of c.356G>A has enriched the variation spectrum of ornithine transcarbamylase gene, and which has revealed the importance of genetic testing in the metabolic diseases.
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| [1] |
WANG Yuzhe, LIU Ling, ZHANG Chunshuang, YANG Qian, WANG Ruijie, YE Yunxiao, CAI Nanan, CHEN Xiaolin, CHENG Guomei. Application of whole exome sequencing in prenatal diagnosis of fetuses with congenital talipes equinovarus[J]. 中国计划生育学杂志, 2023, 31(11): 2765-. |
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