| Autor: |
Xiaole, Li, Dengna, Zhu, Suna, Liu, Chenlu, Jia, Yaqing, Guo, Linlin, Zhang, Mingmei, Wang, Dehua, Zhao |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(7) |
| ISSN: |
1003-9406 |
| Popis: |
To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay.Clinical and laboratory examinations were carried out for the child. Genomic DNA of the patient was subjected to high-throughput sequencing to identify genetic variants associated with hyperphenylalaninemia. Candidate variants were verified by Sanger sequencing.The result of blood tandem mass spectrometry showed that the Phenylalanine in the blood was 642.7 μmol/l, and the ratio of Phenylalanine/Tyrosine was 5.42. Analysis of urinary pterin: neopterin 0.09 mmol/mol Cr, biopterin 0.04 mmol/mol Cr, biopterin% 77%, which suggested tetrahydrobiopterin deficiency. The parents of the proband were first cousins. DNA sequencing revealed that the proband has harbored homozygous c.353AT variants in exon 2 of the GCH1 gene, for which his great grandmother, grandfather, mother, uncle, father and elder brother were heterozygous carriers with normal phenotype and no clinical symptoms associated with dopa responsive dystonia.The homozygous c.353AT variant of the GCH1 gene probably underlay the tetrahydrobiopterin deficiency in this pedigree of consanguineous marriage. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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