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: Ginevra Zanni, Giovanna S Colafati, Sabina Barresi, Francesco Randisi, Lorenzo Figà Talamanca, Elisabetta Genovese, Emanuele Bellacchio, Andrea Bartuli, Bruno Bernardi, Enrico Bertini
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 17 Issue 4 Pg. 361-5 (Jul 2013) ISSN: 1532-2130 [Electronic] England
• PMID: 23317684 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Chemical References

• TUBA1A protein, human
• Tubulin

Topics

• Animals
• Child, Preschool
• Computational Biology
• DNA Mutational Analysis
• Female
• Humans
• Lissencephaly (complications, genetics)
• Magnetic Resonance Imaging
• Malformations of Cortical Development (complications, genetics)
• Models, Molecular
• Mutation (genetics)
• Tubulin (genetics)