Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses
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中国四例琥珀半醛脱氢酶缺乏症及三胎儿产前诊断
DOI：
10.1016/j.gene.2015.07.078
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发表时间：
2015-12-10
期刊：
影响因子：
3.5
通讯作者：
Yang, Yanling
中科院分区：
文献类型：
--
作者：
Li, Xiyuan;Ding, Yuan;Yang, Yanling
琥珀酸半醛脱氢酶缺乏症是一种罕见的常染色体隐性遗传病，影响γ-氨基丁酸(GABA)的降解。在内地，中国只记录了几例SSADH缺乏症病例，而且还没有进行产前诊断。对来自4个无血缘关系的中国家庭的4名患者(3名女孩和1名男孩)在出生50天至1岁时进行选择性筛查，发现SSADH缺乏症。4名患者因顽固性癫痫发作和精神运动发育迟缓入院治疗。他们的尿中4-羟基丁酸明显升高。共发现7个ALDH5A1基因突变，其中6个为新发现：C.127-128insGGCCC(p.L31Pfs*62)，c.615delT(p.F206Sfs*5)，c.1313T>；C(p.L438P)，c.1568C>；T(p.S523F)，1383-2delA和0.15-Mb缺失。此前只报道过一种突变，即c.820C>；T。患者1-3的三位母亲在第三次妊娠期间接受了羊膜穿刺术，胎儿没有受到SSADH缺乏症的影响。婴儿发育正常，出生后尿液有机酸水平证实为产前诊断。(C)2015爱思唯尔B.V.保留所有权利。
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.