Brain malformations and mutations in α- and β-tubulin genes: A review of the literature and description of two new cases

Developmental Medicine and Child Neurology

Volumn 56, Issue 4, 2014, Pages 354-360

  Romaniello, Romina ^a   Arrigoni, Filippo ^a   Cavallini, Anna ^a   Tenderini, Erika ^a   Baschirotto, Cinzia ^a   Triulzi, Fabio ^a   Bassi, Maria Teresa ^a   Borgatti, Renato ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TUBULIN; BETA TUBULIN; TUBULIN ALPHA 1A; TUBULIN BETA 2B; TUBULIN BETA 3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BASAL GANGLION; BASAL GANGLION DYSMORPHISM; BRAIN COMMISSURE; BRAIN MALFORMATION; CEREBELLAR VERMIS HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CORTICAL DYSPLASIA; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HIPPOCAMPUS; HIPPOCAMPUS DYSMORPHISM; HUMAN; HYPOPLASIA; INFANT; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MIDDLE AGED; MUTATION RATE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; OPTIC NERVE HYPOPLASIA; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; SCHOOL CHILD; SCOLIOSIS; SPASTIC TETRAPARESIS; SPASTICITY; YOUNG ADULT;

ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC TESTING; HUMANS; INFANT; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MIDDLE AGED; MUTATION; TUBULIN; YOUNG ADULT;

EID: 84896099926     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12370     Document Type: Article

References (30)

1. Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012; 5: 1348-69.
2. Zucca C, Binda S, Borgatti R, et al. Retrospective diagnosis of congenital cytomegalovirus infection and cortical maldevelopment. Neurology 2003; 61: 710-12.
3. Van Bogaert P, Donner C, David P, Rodesch F, Avni EF, Szliwowski HB. Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin. Dev Med Child Neurol 1996; 38: 166-70.
4. Kariminejad R, Lind-Thomsen A, Tümer Z, et al. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 2011; 32: 1427-35.
5. Tischfield MA, Cederquist GY, Gupta ML Jr, Engle EC. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev 2011; 21: 286-94.
6. Jansen AC, Oostra A, Desprechins B, et al. TUBA1A mutations. From isolated lissenchephaly to familial polymicrogyria. Neurology 2011; 15: 988-92.
7. Poirer K, Saillour Y, Bahi-Buisson N, et al. Mutations in the neuronal beta-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet 2010; 19: 4462-73.
8. Jaglin XH, Chelly J. Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet 2009; 25: 555-66.
9. Tian G, Jaglin XH, Keays DA, Francis F, Chelly J, Cowan NJ. Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Hum Mol Genet 2010; 19: 3599-613.
10. Jissendi-Tchofo P, Kara S, Barkovich J. Midbrain hindbrain involvement in lissencephaly. Neurology 2009; 72: 410-18.
11. Poirier K, Keays DA, Francis F, et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 2007; 28: 1055-64.
12. Cushion TD, Dobyns WB, Mullins JG, et al. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 2013; 136(Pt 2): 536-48.
13. Amrom D, Tanyalçin I, Verhelst H, et al. Polymicrogyria with dysmorphic basal ganglia? Think tubulin! Clin Genet 2013. Published online 15 March 2013; doi: 10.1111/cge.12141 (Epub ahead of print).
14. Kumar RA, Pilz DT, Babatz TD, et al. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet 2010; 19: 2817-27.
15. Okumura A, Hayashi M, Tsurui H, et al. Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. Brain Dev 2013; 35: 274-9.
16. Poirier K, Saillour Y, Fourniol F, et al. Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Eur J Hum Genet 2013; 21: 381-5.
17. Hikita N, Hattori H, Kato M, et al. A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. Brain Dev 2013; 27: 1534-40. Published online 22nd March 2013; doi:10.1016/j.braindev.2013.02.006. (Epub ahead of print).
18. Mokánszki A, Körhegyi I, Szabó N, et al. Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. J Child Neurol 2012; 27: 1534-40.
19. Sohal AP, Montgomery T, Mitra D, Ramesh V. TUBA1A mutation-associated lissencephaly: case report and review of the literature. Pediatr Neurol 2012; 46: 127-31.
20. Jaglin XH, Poirier K, Saillour Y, et al. Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009; 41: 746-52.
21. Romaniello R, Tonelli A, Arrigoni F, et al. A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance. Dev Med Child Neurol 2012; 54: 765-9.
22. Uribe V. The beta-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders. Clin Genet 2010; 77: 34-5.
23. Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E. Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. Eur J Hum Genet 2012; 20: 995-8.
24. Singh KK, Tsai LH. MicroTUB(B3)ules and brain development. Cell 2010; 140: 30-2.
25. Tischfield MA, Baris HN, Wu C, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010; 140: 74-87.
26. Abdollahi MR, Morrison E, Sirey T, et al. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet 2009; 85: 737-44.
27. Morris-Rosendahl DJ, Najm J, Lachmeijer AM, et al. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clin Genet 2008; 74: 425-33.
28. Gupta ML Jr, Bode CJ, Thrower DA, et al. β-Tubulin C354 mutations that severely decrease microtubule dynamics do not prevent nuclear migration in yeast. Mol Biol Cell 2002; 13: 2919-32.
29. Cederquist GY, Luchniak A, Tischfield MA, et al. An inherited TUBB2B mutation alters a kinesin binding site and causes polymicrogyria, CFEOM, and axon dysinnervation. Hum Mol Genet 2012; 21: 5484-99.
30. Keays DA, Cleak J, Huang GJ, et al. The role of Tuba1a in adult hippocampal neurogenesis and the formation of the dentate gyrus. Dev Neurosci 2010; 32: 268-77.