{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12"],"submitter":["Xue J"],"pubmed_abstract":["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 spe"],"journal":["Frontiers in genetics"],"pagination":["752272"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8855097"],"repository":["biostudies-literature"],"pubmed_title":["Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report."],"pmcid":["PMC8855097"],"pubmed_authors":["Li X","Hu Z","Mei S","Han J","Xue J","Zhen L","Zhao X"],"additional_accession":[]},"is_claimable":false,"name":"Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.","description":"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 spe","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2025-04-04T07:55:22.711Z","creation":"2025-04-04T07:55:22.711Z"},"accession":"S-EPMC8855097","cross_references":{"pubmed":["35186000"],"doi":["10.3389/fgene.2021.752272"]}}