Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical Genetics

Volumn 74, Issue 5, 2008, Pages 425-433

  Morris Rosendahl, Deborah J ^a   Najm, J ^b   Lachmeijer, A M A ^c   Sztriha, L ^d   Martins, M ^e   Kuechler, A ^f   Haug, V ^a   Zeschnigk, C ^a   Martin, P ^g   Santos, M ^h   Vasconcelos, C ⁱ   Omran, H ^a   Kraus, U ^g   Van Der Knaap, M S ^c   Schuierer, G ^j   Kutsche, K ^b   Uyanik, G ^k  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF SZEGED   (Hungary)

^e Institute of Medical Genetics   (Portugal)

^f UNIVERSITY OF DUISBURG ESSEN   (Germany)

^g Epilepsy Center Kork   (Germany)

^h HOSPITAL MARIA PIA   (Portugal)

ⁱ HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^j Institute of Neuroradiology   (Germany)

^k UNIVERSITY OF REGENSBURG   (Germany)

more..

Author keywords

1a Tubulin; Lissencephaly; Mutation analysis; Neuronal migration; TUBA1A

Indexed keywords

ALPHA1A TUBULIN; DOUBLECORTIN; LISSENCEPHALY TYPE 1 PROTEIN; PHOSPHOPROTEIN; TUBULIN; UNCLASSIFIED DRUG;

AGYRIA; ARTICLE; CAPSULA INTERNA; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INFANT; MALE; MICROCEPHALY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; BASE SEQUENCE; BRAIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LISSENCEPHALY; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEUROPEPTIDES; PHENOTYPE; POLYMORPHISM, GENETIC; TUBULIN;

EID: 53949087784     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01093.x     Document Type: Article

References (34)

1. Forman MS, Squier W, Dobyns WB et al. Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol 2005: 64 (10): 847-857.
2. Dobyns WB. Developmental aspects of lissencephaly and the lissencephaly syndromes. Birth Defects Orig Artic Ser 1987: 23 (1): 225-241.
3. Dobyns WB, Stratton RF, Greenberg F. Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet 1984: 18 (3): 509-526.
4. Dobyns WB, Curry CJ, Hoyme HE et al. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet 1991: 48 (3): 584-594.
5. Reiner O, Carrozzo R, Shen Y et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993: 364 (6439): 717-721.
6. Gleeson JG, Allen KM, Fox JW et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998: 92 (1): 63-72.
7. des Portes V, Pinard JM, Billuart P et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998: 92 (1): 51-61.
8. Pilz DT, Matsumoto N, Minnerath S et al. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998: 7 (13): 2029-2037.
9. Guerrini R, Moro F, Andermann E et al. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol 2003: 54 (1): 30-37.
10. Dobyns WB, Andermann E, Andermann F et al. X-linked malformations of neuronal migration. Neurology 1996: 47 (2): 331-339.
11. Horesh D, Sapir T, Francis F et al. Doublecortin, a stabilizer of microtubules. Hum Mol Genet 1999: 8 (9): 1599-1610.
12. Smith DS, Niethammer M, Ayala R et al. Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1. Nat Cell Biol 2000: 2 (11): 767-775.
13. Keays DA, Tian G, Poirier K et al. Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 2007: 128 (1): 45-57.
14. 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 (11): 1055-1064.
15. Sztriha L, Johansen JG, Al-Gazali LI. Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. J Child Neurol 2005: 20 (2): 170-172.
16. Kato M, Das S, Petras K et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 2004: 23 (2): 147-159.
17. Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations. Neuropediatrics 2001: 32 (5): 256-263.
18. Hong SE, Shugart YY, Huang DT et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000: 26 (1): 93-96.
19. Dobyns WB, Barkovich AJ. Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: Reply. Neuropediatrics 1999: 30 (2): 104-106.
20. Barkovich AJ, Ferriero DM, Barr RM et al. Microlissencephaly: A heterogeneous malformation of cortical development. Neuropediatrics 1998: 29 (3): 113-119.
21. Barkovich AJ, Kuzniecky RI, Jackson GD et al. A developmental and genetic classification for malformations of cortical development. Neurology 2005: 65 (12): 1873-1887.
22. Ross ME, Walsh CA. Human brain malformations and their lessons for neuronal migration. Annu Rev Neurosci 2001: 24: 1041-1070.
23. Sapir T, Elbaum M, Reiner O. Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit. EMBO J 1997: 16 (23): 6977-6984.
24. Hirotsune S, Fleck MW, Gambello MJ et al. Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nat Genet 1998: 19 (4): 333-339.
25. Moores CA, Perderiset M, Francis F et al. Mechanism of microtubule stabilization by doublecortin. Mol Cell 2004: 14 (6): 833-839.
26. Matsumoto N, Leventer RJ, Kuc JA et al. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet 2001: 9 (1): 5-12.
27. Taylor KR, Holzer AK, Bazan JF et al. Patient mutations in doublecortin define a repeated tubulin-binding domain. J Biol Chem 2000: 275 (44): 34442-34450.
28. Burns RG, Surridge CD. Tubulin: Conservation and structure. In: Hyams JS, Lloyd CW, eds. Microtubules. New York, NY: John Wiley and Sons Inc, 1993: 3-32.
29. Lowe J, Li H, Downing KH et al. Refined structure of alpha beta-tubulin at 3.5 A resolution. J Mol Biol 2001: 313 (5): 1045-1057.
30. Kikkawa M, Okada Y, Hirokawa N. 15 A resolution model of the monomeric kinesin motor, KIF1A. Cell 2000: 100 (2): 241-252.
31. D'Agostino MD, Bernasconi A, Das S et al. Subcortical band heterotopia (SBH) in males: Clinical, imaging and genetic findings in comparison with females. Brain 2002: 125 (Pt 11): 2507-2522.
32. Pilz DT, Kuc J, Matsumoto N et al. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet 1999: 8 (9): 1757-1760.
33. Gleeson JG, Minnerath S, Kuzniecky RI et al. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet 2000: 67 (3): 574-581.
34. Aigner L, Uyanik G, Couillard-Despres S et al. Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. Neurology 2003: 60 (2): 329-332.