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学科主题临床医学
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses
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
2015-12-10
DOI10.1016/j.gene.2015.07.078
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
WOS记录号WOS:000364246900006
项目编号81471097 ; 2012BAI09B04
资助机构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
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64705
专题北京大学第一临床医学院_儿科
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
推荐引用方式
GB/T 7714
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.
APA Li, Xiyuan.,Ding, Yuan.,Liu, Yupeng.,Zhang, Yao.,Song, Jinqing.,...&Yang, Yanling.(2015).Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.GENE,574(1),41-47.
MLA Li, Xiyuan,et al."Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses".GENE 574.1(2015):41-47.
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