biostudies-literatureUnknown12Xue JTransaldolase (TALDO) deficiency is a rare autosomal recessive disorder caused by variants in the <i>TALDO1</i> gene that commonly results in multisystem dysfunction. Herein, we reported compound heterozygous variants in a Chinese prenatal case with TALDO deficiency using whole-exome sequencing (WES) for trios and Sanger sequencing. The heterozygous variants were located on the <i>TALDO1</i> gene: NM_006755.2:c.574C > T(Chr11:g.763456C > T), a missense variant in exon 5 paternally inherited; NM_006755.2:c.462-2A > G(Chr11:g.763342A > G), a splicing aberration in intron 4 maternally inherited. The qualitative analysis of urinary polyols in neonatal urine indicated that xylitol + arabitol and ribitol in the proband's urine were significantly increased. These findings expand the variation speFrontiers in genetics752272https://www.ebi.ac.uk/biostudies/studies/S-EPMC8855097biostudies-literaturePrenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.PMC8855097Li XHu ZMei SHan JXue JZhen LZhao XfalsePrenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.Transaldolase (TALDO) deficiency is a rare autosomal recessive disorder caused by variants in the <i>TALDO1</i> gene that commonly results in multisystem dysfunction. Herein, we reported compound heterozygous variants in a Chinese prenatal case with TALDO deficiency using whole-exome sequencing (WES) for trios and Sanger sequencing. The heterozygous variants were located on the <i>TALDO1</i> gene: NM_006755.2:c.574C > T(Chr11:g.763456C > T), a missense variant in exon 5 paternally inherited; NM_006755.2:c.462-2A > G(Chr11:g.763342A > G), a splicing aberration in intron 4 maternally inherited. The qualitative analysis of urinary polyols in neonatal urine indicated that xylitol + arabitol and ribitol in the proband's urine were significantly increased. These findings expand the variation spe2021-01-01T00:00:00Z20212025-04-04T07:55:22.711Z2025-04-04T07:55:22.711ZS-EPMC88550973518600010.3389/fgene.2021.752272