F. Sarkargar, Seyed Ali Madani Manshadi, Ehsan Zare Mehrjardi, Hosein Khodaei, S. Kalantar, Seyed Ahmad Mohamamdi
{"title":"伊朗III型高酪氨酸血症患者的复合杂合HPD突变","authors":"F. Sarkargar, Seyed Ali Madani Manshadi, Ehsan Zare Mehrjardi, Hosein Khodaei, S. Kalantar, Seyed Ahmad Mohamamdi","doi":"10.18502/ijml.v9i4.11619","DOIUrl":null,"url":null,"abstract":"Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. \nMaterials and Methods: The proband was one and half-year-old Iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. In this study, we used Whole-Exome Sequencing to identify the genetic reason for the disease and the funded mutation confirmed by Sanger sequencing. \nResults and Conclusion: Through whole-exome sequencing screening of heterozygotes c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in the HPD gene and genetically confirmed by Sanger sequencing. There were heterozygous conditions c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in father and mother respectively. This mutation in her parents was also confirmed by Sanger sequencing.","PeriodicalId":183358,"journal":{"name":"International Journal of Medical Laboratory","volume":"188 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III\",\"authors\":\"F. Sarkargar, Seyed Ali Madani Manshadi, Ehsan Zare Mehrjardi, Hosein Khodaei, S. Kalantar, Seyed Ahmad Mohamamdi\",\"doi\":\"10.18502/ijml.v9i4.11619\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. \\nMaterials and Methods: The proband was one and half-year-old Iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. In this study, we used Whole-Exome Sequencing to identify the genetic reason for the disease and the funded mutation confirmed by Sanger sequencing. \\nResults and Conclusion: Through whole-exome sequencing screening of heterozygotes c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in the HPD gene and genetically confirmed by Sanger sequencing. There were heterozygous conditions c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in father and mother respectively. This mutation in her parents was also confirmed by Sanger sequencing.\",\"PeriodicalId\":183358,\"journal\":{\"name\":\"International Journal of Medical Laboratory\",\"volume\":\"188 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Medical Laboratory\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.18502/ijml.v9i4.11619\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Medical Laboratory","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18502/ijml.v9i4.11619","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III
Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives.
Materials and Methods: The proband was one and half-year-old Iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. In this study, we used Whole-Exome Sequencing to identify the genetic reason for the disease and the funded mutation confirmed by Sanger sequencing.
Results and Conclusion: Through whole-exome sequencing screening of heterozygotes c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in the HPD gene and genetically confirmed by Sanger sequencing. There were heterozygous conditions c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in father and mother respectively. This mutation in her parents was also confirmed by Sanger sequencing.