PT -期刊文章盟法比奥·托雷斯AU -西蒙Tsuneda盟的职位——爱德华多山本盟博尔赫斯AU -韦斯利Ide AU -克莉斯婷罗查AU -弗朗索瓦•Artiguenave AU -费尔南多Cendes盟Marilisa Guerreiro AU - Iscia Lopes-Cendes TI -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) DP - 2013年2月12日TA -神经病学PG - P05.089 P05.089 VI - 80 IP - 7补充4099 - //www.ez-admanager.com/content/80/7_Supplement/P05.089.short 4100 - //www.ez-admanager.com/content/80/7_Supplemen首页t/P05.089.full所以Neurology2013 2月12;80 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。 After performing a series of pipeline adjustments using a logic algorithm developed in our laboratory we found 22 candidate variants present in the 12 genes which were present in the patients but were absent in the control individual. 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