Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
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DOI：
10.1016/j.ajhg.2014.09.014
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发表时间：
2014-11-06
影响因子：
9.8
通讯作者：
Xia, Fan
中科院分区：
文献类型：
--
作者：
Lalani, Seema R.;Zhang, Jing;Xia, Fan
5q31.3微缺失综合征以新生儿肌张力减退、脑病伴或不伴癫痫和严重发育迟缓为特征，最小临界缺失间隔包含三个基因。我们描述了11例5q31.3微缺失综合征的临床特征和PURA（编码转录激活蛋白Pur-a）的从头突变。这些数据表明，在该综合征中观察到的严重神经系统表型是由PURA突变引起的。
5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors three genes. We describe 11 individuals with clinical features of 5q31.3 microdeletion syndrome and de novo mutations in PURA, encoding transcriptional activator protein Pur-a, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome.