Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

作者：Zanni Ginevra; Colafati Giovanna S; Barresi Sabina; Randisi Francesco; Talamanca Lorenzo Figa; Genovese Elisabetta; Bellacchio Emanuele; Bartuli Andrea; Bernardi Bruno; Bertini Enrico^*

来源：European Journal of Paediatric Neurology, 2013, 17(4): 361-365.

DOI：10.1016/j.ejpn.2012.12.006

• Tubulin 1A
• Polymicrogyria
• Cerebellar hypoplasia
• Cortical dysgenesis

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.

• 出版日期2013-7