RT期刊文章SR电子T1临床、放射学和遗传的结果在一群50 Nonsyndromic和综合征患者Polymicrogyria乔(S25.005)摩根富林明神经病学神经病学FD Lippincott Williams &威尔金斯SP S25.005 OP S25.005 VO 80是7补充A1迪娜Amrom A1雅克·米肖德A1格兰首页特米切尔A1 Emmanuelle Lemyre A1安纳普尔纳峰Poduri A1詹妮弗·帕特洛A1 Vijay Ganesh A1伯纳德•丹A1 Giorgi Kuchukhidze A1虹膜Unterberger A1尤金Trinka A1尼古拉斯Deconinck A1凯瑟琳克利斯朵夫A1布鲁诺Pichon A1弗朗索瓦Dubeau A1 Donatella Tampieri A1特里威廉Decarie A1 Dobyns A1弗雷德里克Andermann A1 Christopher Walsh A1 Eva Andermann年2013 UL //www.ez-admanager.com/content/80/7_Supplement/S25.005.abstract AB目的:研究临床、放射学和基因数据在一群50 Nonsyndromic和综合征患者Polymicrogyria(体)。背景:体的常见临床特征包括癫痫、发育迟缓、oromotor障碍和运动障碍。体是皮质的畸形发展的特点是许多小脑回,可以归因于环境原因,单基因疾病与各种模式的继承,或染色体重组,通常是零星的。设计/方法:包含任何类型的体,排除证实先天性巨细胞病毒/弓形体病。我们进行了详细的回顾医疗记录;核型和/或全息和/或基因组SNP芯片;当显示与特定的基因分析。结果:我们研究了46个零星的病人和两个家庭有两个兄弟姐妹。他们的体模式是变量。24/50(48%)有关联的大脑畸形,包括结节性异位5/24、4/24头小畸型,胼胝体发育不全2/24,2/24脑干发育不全,hemimegalencephaly 2/24, 1/24焦皮质发育不良,1/24视交叉发育不全。10/50(20%)体的综合症。一个相互易位核型显示46,XY t (8; 22) (p23.1; p11.2)。 Of 27 CGH microarray results, 23 (85%) were normal. The detected CGH anomalies included a 22q11del, 1p36del, a 2p21del of unknown significance, and a 2p13.3-p16.3duplication. We fine mapped a subgroup of bilateral perisylvian polymicrogyria (BPP) patients to 2p16.1-p16.3. We identified a novel TUBB2B mutation in exon 4 in a sporadic patient with PMG and associated anomalies of the basal ganglia and brainstem; neither parent carried this mutation.CONCLUSIONS: Polymicrogyria is markedly heterogeneous. Our results support previous suggestions of PMG loci on chromosomes 22q11 and 1p36. We have narrowed a novel locus for BPP to 2p13.1-p16.3. These data can help to identify the causative genes located in these regions. We found a novel and de novo TUBB2B mutation in a patient with complex PMG. Identification of associated brain malformations and phenotypic anomalies can help to orient the genetic diagnosis.Supported by: Children's Hospital Boston (CHB), Division of Genetics; Réseau de Médecine Génétique Appliquée, Quebec.Disclosure: Dr. Amrom has nothing to disclose. Dr. Michaud has nothing to disclose. Dr. Mitchell has nothing to disclose. Dr. Lemyre has nothing to disclose. Dr. Poduri has nothing to disclose. Dr. Partlow has nothing to disclose. Dr. Ganesh has nothing to disclose. Dr. Dan has nothing to disclose. Dr. Kuchukhidze has nothing to disclose. Dr. Unterberger has nothing to disclose. Dr. Trinka has received personal compensation for activities with UCB Pharma, Eisai Inc., Sepracor, Medtronic, Inc., Pfizer, and Ever-Neuropharma. Dr. Trinka has received research support from UCB Pharma. Dr. Deconinck has nothing to disclose. Dr. Christophe has nothing to disclose. Dr. Pichon has nothing to disclose. Dr. Dubeau has nothing to disclose. Dr. Tampieri has nothing to disclose. Dr. Decarie has nothing to disclose. Dr. Dobyns has nothing to disclose. Dr. Andermann has nothing to disclose. Dr. Walsh has nothing to disclose. Dr. Andermann has receieved research support from UCB, Sunovion, and Santhera.Wednesday, March 20 2013, 2:00 pm-3:45 pm