title: Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.
abstract: 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.
authors: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 400165 Rome, Italy.
authors: Ginevra
authors: G
authors: Zanni
authors: Giovanna S
authors: GS
authors: Colafati
authors: Sabina
authors: S
authors: Barresi
authors: Francesco
authors: F
authors: Randisi
authors: Lorenzo Figà
authors: LF
authors: Talamanca
authors: Elisabetta
authors: E
authors: Genovese
authors: Emanuele
authors: E
authors: Bellacchio
authors: Andrea
authors: A
authors: Bartuli
authors: Bruno
authors: B
authors: Bernardi
authors: Enrico
authors: E
authors: Bertini
mesh_terms: D000818:Animals; D002675:Child, Preschool; D019295:Computational Biology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D054082:Lissencephaly / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000150:complications / Q000235:genetics*; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics*; D014404:Tubulin / Q000235:genetics*
chemical_list: C533522:TUBA1A protein, human; D014404:Tubulin