RT期刊文章SR电子T1下一代测序揭示了候选基因为x连锁双边先天性Perisylvian Polymicrogyria综合症(P05.089)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP P05.089 OP P05.089 VO 80是7补充A1法比奥·托雷斯A1西蒙Tsuneda A1爱德华多首页山本A1的职位博尔赫斯A1韦斯利Ide A1克莉斯婷罗查A1弗朗索瓦Artiguenave A1费尔南多Cendes A1 Marilisa Guerreiro A1 Iscia Lopes-Cendes年2013 UL //www.ez-admanager.com/content/80/7_Supplement/P05.089.abstract AB目的:识别有害突变导致的x染色体遗传先天性居多Perisylvian Polymicrogyria (BCPP)综合征的一个大家庭。背景:polymicrogyria BCPP是最常见的形式。描述了家族性复发BCPP和继承已确定的不同模式。最近,染色体中Xq28已被确定为一个候选人BCPP轨迹。这是一个高度重复区域,使其容易异源重组事件,导致遗传物质的复制和删除。最近,我们的团队已经确定了一个大家庭的x染色体遗传BCPP居多。设计/方法:四个家庭成员,三个影响和一个未受影响,提交给下一代测序。X染色体的所有外显子捕获SureSelectXT技术(安捷伦科技)和测序在高性能Hiseq测序设备(Illumina公司)。此外,为了评估是否参与BCPP亚微观的结构重排,三个患者提交高清Cytoscan数组(Affymetrix)。结果:所有外显子捕获测序和50 x的报道。大约3402个变异存在于多个基因被发现。后执行的一系列管道调整使用逻辑算法在我们实验室开发我们发现22个候选人在在场的12个基因变异的病人,但没有在控制个体。 HD Cytoscan Array analysis did not reveal structural X chromosome rearrangements in patients evaluated.CONCLUSIONS: Bioinformatics analysis of high performance sequencing data revealed two genes as potential candidates for BCPP etiology in the family studied. Putative roles related to development and/or cell division pathways make the two candidate genes identified relevant for BCPP. In addition, we conclude that gross chromosomal abnormalities are not involved with BCPP etiology in this family, thus point mutations or small deletions are likely to be the event leading to this syndrome.Supported by: CAPES and FAPESP.Disclosure: Dr. Torres has nothing to disclose. Dr. Tsuneda has nothing to disclose. Dr. Yamamoto has nothing to disclose. Dr. Borges has nothing to disclose. Dr. Ide has nothing to disclose. Dr. Rocha has nothing to disclose. Dr. Artiguenave has nothing to disclose. Dr. Cendes has nothing to disclose. Dr. Guerreiro has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose.Wednesday, March 20 2013, 2:00 pm-7:00 pm