Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 400165 Rome, Italy.
Eur J Paediatr Neurol. 2013 Jul;17(4):361-5. doi: 10.1016/j.ejpn.2012.12.006. Epub 2013 Jan 11.
Mutations of TUBA1A gene were first identified as causing a distinctive neuroradiologic phenotype characterized by cortical abnormalities ranging from classical lissencephaly to perisylvian pachygyria with dysgenetic corpus callosum, brainstem and cerebellum. We describe the clinical and neuroradiological features of a 3 years old girl carrying a novel missense TUBA1A mutation associated with asymmetrical polymicrogyria and provide structural data about the mutation. Our case confirm that the spectrum of tubulin-related cortical phenotypes is wide and that the screening of these genes should be implemented in patients with mid-hindbrain dysgenesis, partial of complete corpus callosum agenesis and varying degrees of cortical abnormalities.
TUBA1A 基因突变首先被确定为引起独特的神经放射学表型，其特征为皮质异常，从经典的无脑回畸形到脑回周围脑回发育不良，伴有胼胝体、脑干和小脑发育不良。我们描述了一名 3 岁女孩的临床和神经放射学特征，该女孩携带一种新的错义 TUBA1A 突变，与不对称性多小脑回畸形有关，并提供了关于该突变的结构数据。我们的病例证实，微管相关皮质表型的范围很广，因此应该在中后脑发育不良、部分或完全胼胝体发育不全和不同程度皮质异常的患者中进行这些基因的筛查。
