Analysis of ornithine transcarbamylase gene variation of 1 patient with late-onset ornithine transcarbamylase deficiency
Objective: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 vari-ants of OTCD were verified by Sanger sequencing and the structure of the variant protein was analyzed by bioinformat-ics.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 patho-genic variant(PM1+PM2_Supporting+PP3_Strong),and the mutation frequency of which in multiple normal popu-lation databases was 0.The OTC gene variant of this child and his parents were verified by Sanger sequencing tech-nique,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 en-riched the variation spectrum of ornithine transcarbamylase gene,and which has revealed the importance of genetic tes-ting in the metabolic diseases.
Ornithine transcarbamylase deficiencyOrnithine transcarbamylase geneOrganic acid analysis of blood and urineWhole exome sequencing
万方数据
维普
