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学科主题: 临床医学
题名:
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses
作者: Li, Xiyuan1; Ding, Yuan1; Liu, Yupeng1; Zhang, Yao1; Song, Jinqing1; Wang, Qiao1; Li, Mengqiu2; Qin, Yaping2; Huang, Shangzhi2,3; Yang, Yanling1
关键词: Succinic semialdehyde dehydrogenase deficiency ; ALDH5A1 gene ; 4-Hydroxybutyric aciduria ; gamma-Aminobutyric acid (GABA) ; Novel mutation ; Prenatal diagnosis
刊名: GENE
发表日期: 2015-12-10
DOI: 10.1016/j.gene.2015.07.078
卷: 574, 期:1, 页:41-47
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: SSADH DEFICIENCY ; GABA-METABOLISM ; ACIDURIA ; MITOCHONDRIA ; DISORDER ; EPILEPSY ; SPECTRUM ; DISEASE ; PROFILE ; SYSTEM
英文摘要:

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder that affects the degradation of gamma-aminobutyric acid (GABA). Only a few cases of SSADH deficiency have been documented in mainland China and prenatal diagnosis has not been performed. SSADH deficiency in four patients (three girls and one boy) from four unrelated Chinese families was detected by selective screening at the age of 50 days to 1 year. Four patients were admitted due to intractable seizures and psychomotor retardation. Their urine 4-hydroxybutyric acid was significantly elevated. Seven mutations in their ALDH5A1 gene were identified, of which the following six were novel: c.127-128insGGCCC (p.L31Pfs*62), c.615delT (p.F206Sfs*5), c.1313T>C (p.L438P), c.1568C>T (p.S523F), 1383-2delA and a 0.15-Mb deletion harboring ALDH5A1. Only one mutation, c.820C>T, had been previously reported. Three mothers of Patients 1-3 underwent amniocentesis during their third pregnancy and the fetuses were not affected by SSADH deficiency. Normal development and urine organic acid levels of the infants confirmed the prenatal diagnosis after birth. (C) 2015 Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 81471097 ; 2012BAI09B04
项目资助者: National Natural Science Foundation of China ; Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology
WOS记录号: WOS:000364246900006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64705
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: 1.Similan Clin, Beijing 100070, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
3.Chinese Acad Med Sci, Peking Union Med Coll, Dept Med Genet, WHO Collaborating Ctr Community Control Hereditar, Beijing 100730, Peoples R China

Recommended Citation:
Li, Xiyuan,Ding, Yuan,Liu, Yupeng,et al. Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses[J]. GENE,2015,574(1):41-47.
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