RT期刊文章SR电子T1扩大的表型TUBB4A相关hypomyelinating脑白质病摩根富林明神经病学神经学乔FD Lippincott Willi首页ams &威尔金斯SP 2230 OP 2237 10.1212 / WNL。82签证官0000000000000535是24 A1聪Miyatake A1仁大阪A1 Masaaki Shiina A1 (Masayuki佐佐木A1 Jun-ichi Takanashi A1 Kazuhiro Haginoya A1 Takahito和田A1 Masafumi森本晃司A1 Naoki安藤A1这样跟Ikuta A1中岛美嘉A1 manuscript Tsurusaki A1 Noriko宅一生A1理事长绪方Kazuhiro A1 Naomichi松本A1 Hirotomo Saitsu年2014 UL //www.ez-admanager.com/content/82/24/2230.abstract AB目的:我们执行whole-exome测序分析患者的基因没有解决hy首页pomyelinating脑白质病,识别患者8 TUBB4A突变和允许TUBB4A突变的表型光谱研究。方法:14 hypomyelinating患者脑白质病7临床诊断与hypomyelination基底神经节和小脑萎缩(H-ABC)和7非保密hypomyelinating脑白质病,被whole-exome测序分析。突变的影响在微管装配检查通过改变氨基酸映射到三维模型αβ-tubulin异质二聚体。结果:6个杂合的错义突变TUBB4A 5的小说,发现8例患者(6/7 H-ABC(剩下的病人是一个典型的例子),2/7患者非保密hypomyelinating脑白质病)。与父母的样品可用4例,突变发生新创。三维模型的分析表明,p。Glu410Lys突变,确定患者的非保密hypomyelinating脑白质病,直接损害马达蛋白和/或microtubule-associated蛋白与微管相互作用,而其他突变影响纵向相互作用维持αβ-tubulin结构,表明不同的机制在微管蛋白功能障碍。在患者p。Glu410Lys突变,基底神经节萎缩是未被注意的或最小尽管锥体束外的功能检测,表明其功能障碍。结论:典型H-ABC TUBB4A突变引起。此外,TUBB4A副突变情况下的非机密hypomyelinating脑白质病与形态保留但功能受损的基底神经节,表明TUBB4A-related hypomyelinating脑白质病包括更广泛的临床表现比之前预计的要高。 Extrapyramidal findings may be a key for consideration of TUBB4A mutations in hypomyelinating leukoencephalopathies.4H=hypomyelination, hypodontia, and hypogonadotropic hypogonadism; H-ABC=hypomyelination with atrophy of the basal ganglia and cerebellum; MAP=microtubule-associated protein; MREI=Met-Arg-Glu-Ile; TUBB4A=tubulin, beta 4A class IVa

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