Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus
A novel pathogenic variant, c.843_844inv (p. (Trp282Gly)), was identified in the <i>TAT</i> gene, which, in combination with c.1125 + 1G>T, causes tyrosinemia type II. Functional studies confirmed that this novel variant leads to a significant reduction in <i>TAT</i> protein levels. These findings expand the mutational spectrum of <i>TAT</i> and provide a basis for clinical diagnosis and genetic counseling.
Authors
- Meirong Peng (ORCID: https://orcid.org/0000-0003-2171-3707)
- Weitong Huang
- Jian Song (ORCID: https://orcid.org/0000-0002-2459-7046)
- Lingzhang Meng
- Fei Tong
- Lin Huang
- Jiajia Shen
- Weifang Huang
Institutions
- The People's Hospital of Guangxi Zhuang Autonomous Region (CN)
- Guangxi Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-03-11
- DOI
- https://doi.org/10.3389/fgene.2026.1753440
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Guangxi Zhuang Autonomous Region
- National Natural Science Foundation of China