ArticleFrontiers in genetics2026
Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To identify the genetic etiology in a neonate with persistent hypertyrosinemia and characterize the functional impact of a novel Methods: A neonate suspected of having tyrosinemia type II following newborn screening by tandem mass spectrometry was recruited, along with family members. Whole-exome sequencing (WES) was performed to identify causative variants. To validate the pathogenicity of the identified novel locus, wild-type and mutant Results: The proband exhibited persistently elevated blood tyrosine levels (>600 μmol/L) on repeated screenings. Genetic analysis revealed compound heterozygous variants in the Conclusion: A novel pathogenic variant, c.843_844inv (p. (Trp282Gly)), was identified in the
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