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学科主题: 临床医学
题名:
Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene
作者: Wu, Tong-Fei; Liu, Yu-Peng; Li, Xi-Yuan; Wang, Qiao; Song, Jin-Qing; Yang, Yan-Ling
关键词: Prenatal diagnosis ; Citrullinemia type 1 ; Argininosuccinate synthetase ; ASS1 gene
刊名: BRAIN & DEVELOPMENT
发表日期: 2014-03-01
DOI: 10.1016/j.braindev.2013.03.005
卷: 36, 期:3, 页:264-267
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: PREGNANCY
英文摘要:

Background: Argininosuccinate synthetase deficiency (citrullinemia type 1) is a rare autosomal recessive disorder of the urea cycle characterized by elevated concentrations of citrulline, ammonia, and orotic acid, manifesting with acute hyperammonemic crises, usually early in life, with concurrent neurologic deterioration. Only a few cases of citrullinemia type 1 have been documented from mainland China. Prenatal diagnosis has not been performed.

Methods: A Chinese family affected by citrullinemia type 1 was studied. The proband, a girl, was the second child born to a non-consanguineous couple. Her elder brother died at 19 months due to coma and liver dysfunction of unknown cause. The proband was admitted because of severe mental retardation and lethargy at the age of 15 months. Initial laboratory results revealed hyperammonaemia, hypercitrullinemia (928.771 mu mol/L, normal 5.0-25.0 mu mol/L) and orotic aciduria, supporting the diagnosis of citrullinemia type 1. Subsequently, the mother presented at 15 weeks of pregnancy seeking for genetic counseling and prenatal diagnosis. ASS1 gene in the blood leukocytes of the family members and amniocytes was performed by direct sequencing.

Results: On the ASS1 gene of the proband, a novel mutation, T1009C (C337R), and a previously reported mutation G847A (E283K) were identified. Each parent carries one of two mutations. G847A and T1009C mutations were detected in amniocytes, as same as the proband of the family The result revealed that the fetus was affected by argininosuccinate synthetase deficiency. The parents chose to have a termination of the pregnancy.

Conclusions: Prenatal diagnosis for citrullinemia type 1 was performed in a Chinese family using gene analysis. T1009C (C337R), a novel mutation of ASS 1, was identified. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier E.V. All rights reserved.

语种: 英语
所属项目编号: 30872794 ; 2012BAI09B04 ; 7081002
项目资助者: National Nature Science Foundation of China ; Ministry of Science and Technology ; Beijing Nature Science Foundation
WOS记录号: WOS:000332920400011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54214
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Wu, Tong-Fei,Liu, Yu-Peng,Li, Xi-Yuan,et al. Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene[J]. BRAIN & DEVELOPMENT,2014,36(3):264-267.
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