Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with a spectrum of brain malformations. One of these conditions is TUBB2A-related tubulinopathy. Currently, there are 9 reported individuals with pathogenic variants within the TUBB2A gene, with common manifestations including, but not limited to, global developmental delay, seizures, cortical dysplasia, and dysmorphic corpus callosum. We report 3 patients identified by exome and genome sequencing to have a novel, pathogenic, missense variant in TUBB2A (p.Gly98Arg). They presented similarly with intellectual disability, hypotonia, and global developmental delay and varied with respect to the type of cortical brain malformation, seizure history, diagnosis of autism spectrum disorder, and other features. This case series expands the natural history of TUBB2A-related tubulinopathy while describing the presentation of a novel, pathogenic, missense variant in 3 patients.
Mol Syndromol

中文翻译：

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扩展 TUBB2A 相关肾小管病的表型：三例新型杂合 TUBB2A 致病变异 p.Gly98Arg

微管蛋白病是由 6 种微管蛋白基因变异引起的一组疾病，这些基因表现出一系列脑畸形。这些病症之一是TUBB2A相关的微管蛋白病。目前，已有 9 名TUBB2A基因内有致病性变异的报道个体，其常见表现包括但不限于全面发育迟缓、癫痫发作、皮质发育不良和畸形胼胝体。我们报告了通过外显子组和基因组测序确定的 3 名患者在TUBB2A 中具有新的致病性错义变异(p.Gly98Arg)。他们表现出类似的智力障碍、肌张力减退和全面发育迟缓，并且在皮质脑畸形的类型、癫痫发作史、自闭症谱系障碍的诊断和其他特征方面有所不同。本病例系列扩展了TUBB2A相关微管蛋白病的自然病程，同时描述了 3 名患者的新型致病性错义变异。
摩尔综合征