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Prenatal 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 TALDO1 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 t...

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Autores principales: Xue, Jiaxin, Han, Jin, Zhao, Xiaopeng, Zhen, Li, Mei, Shanshan, Hu, Zhiyang, Li, Xiuzhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855097/
https://www.ncbi.nlm.nih.gov/pubmed/35186000
http://dx.doi.org/10.3389/fgene.2021.752272
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author Xue, Jiaxin
Han, Jin
Zhao, Xiaopeng
Zhen, Li
Mei, Shanshan
Hu, Zhiyang
Li, Xiuzhen
author_facet Xue, Jiaxin
Han, Jin
Zhao, Xiaopeng
Zhen, Li
Mei, Shanshan
Hu, Zhiyang
Li, Xiuzhen
author_sort Xue, Jiaxin
collection PubMed
description Transaldolase (TALDO) deficiency is a rare autosomal recessive disorder caused by variants in the TALDO1 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 TALDO1 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 spectrum of the TALDO1 gene, provide solid evidence for the counseling of the family in regard to future pregnancies, strongly support the application of WES in prenatal diagnosis, and further prove that effective postpartum treatments could improve prognosis.
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spelling pubmed-88550972022-02-19 Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report Xue, Jiaxin Han, Jin Zhao, Xiaopeng Zhen, Li Mei, Shanshan Hu, Zhiyang Li, Xiuzhen Front Genet Genetics Transaldolase (TALDO) deficiency is a rare autosomal recessive disorder caused by variants in the TALDO1 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 TALDO1 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 spectrum of the TALDO1 gene, provide solid evidence for the counseling of the family in regard to future pregnancies, strongly support the application of WES in prenatal diagnosis, and further prove that effective postpartum treatments could improve prognosis. Frontiers Media S.A. 2022-02-04 /pmc/articles/PMC8855097/ /pubmed/35186000 http://dx.doi.org/10.3389/fgene.2021.752272 Text en Copyright © 2022 Xue, Han, Zhao, Zhen, Mei, Hu and Li. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Xue, Jiaxin
Han, Jin
Zhao, Xiaopeng
Zhen, Li
Mei, Shanshan
Hu, Zhiyang
Li, Xiuzhen
Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
title Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
title_full Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
title_fullStr Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
title_full_unstemmed Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
title_short Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
title_sort prenatal diagnosis of fetus with transaldolase deficiency identifies compound heterozygous variants: a case report
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855097/
https://www.ncbi.nlm.nih.gov/pubmed/35186000
http://dx.doi.org/10.3389/fgene.2021.752272
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