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Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency

β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of β-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with βUP deficiency. We reported 7 C...

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Autores principales: Fang, Yulian, Cai, Chunquan, Wang, Chao, Sun, Bei, Zhang, Xinjie, Fan, Wenxuan, Hu, Wenchao, Meng, Yingtao, Lin, Shuxiang, Zhang, Chunhua, Zhang, Yuqin, Shu, Jianbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344145/
https://www.ncbi.nlm.nih.gov/pubmed/30608453
http://dx.doi.org/10.1097/MD.0000000000014021
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author Fang, Yulian
Cai, Chunquan
Wang, Chao
Sun, Bei
Zhang, Xinjie
Fan, Wenxuan
Hu, Wenchao
Meng, Yingtao
Lin, Shuxiang
Zhang, Chunhua
Zhang, Yuqin
Shu, Jianbo
author_facet Fang, Yulian
Cai, Chunquan
Wang, Chao
Sun, Bei
Zhang, Xinjie
Fan, Wenxuan
Hu, Wenchao
Meng, Yingtao
Lin, Shuxiang
Zhang, Chunhua
Zhang, Yuqin
Shu, Jianbo
author_sort Fang, Yulian
collection PubMed
description β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of β-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with βUP deficiency. We reported 7 Chinese patients with βUP deficiency who were admitted at Tianjin Children's Hospital. Urine metabolomics was detected by gas chromatography–mass spectrometry (GC–MS). Then genetic testing of UPB1 was conducted by polymerase chain reaction (PCR) method. The patients presented with developmental delay, seizures, autism, abnormal magnetic resonance imaging, and significantly elevated levels of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid in urine. Subsequent analysis of UPB1 mutation revealed 2 novel missense mutations (c.851G>T and c.853G>A), 3 previously reported mutations including 2 missense mutations (c.977G>A and c.91G>A) and 1 splice site mutation (c.917-1 G>A). The results suggested that the UPB1 mutation may contribute to βUP deficiency. The c.977G>A is the most common mutation in Chinese population.
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spelling pubmed-63441452019-02-04 Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency Fang, Yulian Cai, Chunquan Wang, Chao Sun, Bei Zhang, Xinjie Fan, Wenxuan Hu, Wenchao Meng, Yingtao Lin, Shuxiang Zhang, Chunhua Zhang, Yuqin Shu, Jianbo Medicine (Baltimore) Research Article β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of β-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with βUP deficiency. We reported 7 Chinese patients with βUP deficiency who were admitted at Tianjin Children's Hospital. Urine metabolomics was detected by gas chromatography–mass spectrometry (GC–MS). Then genetic testing of UPB1 was conducted by polymerase chain reaction (PCR) method. The patients presented with developmental delay, seizures, autism, abnormal magnetic resonance imaging, and significantly elevated levels of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid in urine. Subsequent analysis of UPB1 mutation revealed 2 novel missense mutations (c.851G>T and c.853G>A), 3 previously reported mutations including 2 missense mutations (c.977G>A and c.91G>A) and 1 splice site mutation (c.917-1 G>A). The results suggested that the UPB1 mutation may contribute to βUP deficiency. The c.977G>A is the most common mutation in Chinese population. Wolters Kluwer Health 2019-01-04 /pmc/articles/PMC6344145/ /pubmed/30608453 http://dx.doi.org/10.1097/MD.0000000000014021 Text en Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial License 4.0 (CCBY-NC), where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc/4.0
spellingShingle Research Article
Fang, Yulian
Cai, Chunquan
Wang, Chao
Sun, Bei
Zhang, Xinjie
Fan, Wenxuan
Hu, Wenchao
Meng, Yingtao
Lin, Shuxiang
Zhang, Chunhua
Zhang, Yuqin
Shu, Jianbo
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency
title Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency
title_full Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency
title_fullStr Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency
title_full_unstemmed Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency
title_short Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency
title_sort clinical and genetic analysis of 7 chinese patients with β-ureidopropionase deficiency
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344145/
https://www.ncbi.nlm.nih.gov/pubmed/30608453
http://dx.doi.org/10.1097/MD.0000000000014021
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