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

Ginevra Zanni, Giovanna S. Colafati, Sabina Barresi, Francesco Randisi, Lorenzo Figà Talamanca, Elisabetta Genovese, Emanuele Bellacchio, Andrea Bartuli, Bruno Bernardi, Enrico Bertini

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)361-365
Number of pages5
JournalEuropean Journal of Paediatric Neurology
Volume17
Issue number4
DOIs
Publication statusPublished - Jul 2013

Fingerprint

Lissencephaly
Rhombencephalon
Phenotype
Mutation
Corpus Callosum
Missense Mutation
Tubulin
Cerebellum
Genes
Brain Stem
Polymicrogyria
Partial agenesis of corpus callosum

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

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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.",
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AU - Zanni, Ginevra

AU - Colafati, Giovanna S.

AU - Barresi, Sabina

AU - Randisi, Francesco

AU - Talamanca, Lorenzo Figà

AU - Genovese, Elisabetta

AU - Bellacchio, Emanuele

AU - Bartuli, Andrea

AU - Bernardi, Bruno

AU - Bertini, Enrico

PY - 2013/7

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N2 - 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.

AB - 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.

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