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Biallelic splice variant c.136-2A>G in GSTZ1 was identified in one neonate after newborn screening for hepatorenal tyrosinemia type I in a cohort of 516 803 infants, with segregation analysis revealing maternal heterozygosity and paternal homozygosity; the father remained asymptomatic at age 32 (PMID:38535121). The lack of clinical or laboratory abnormalities in a homozygous adult over three decades disputes a pathogenic role for GSTZ1 in maleylacetoacetate isomerase deficiency. Key Take-home: GSTZ1 variants detected during HT1 screening may represent benign findings and warrant careful clinical interpretation.
Gene–Disease AssociationDisputedSingle family with one proband and unaffected homozygous parent over 32 years indicates lack of clinical phenotype (PMID:38535121) Genetic EvidenceLimitedOnly one biallelic case reported and no affected relatives segregating disease Functional EvidenceLimitedNo functional studies on the splice variant; existing enzyme polymorphism data not linked to clinical phenotype |