Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: The key questions answered

Journal of Child Neurology

Volumn 20, Issue 4, 2005, Pages 307-312

  Leventer, Richard Jacob ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLECORTIN;

AGYRIA; BASE PAIRING; BRAIN MALFORMATION; CELL MIGRATION; CLINICAL FEATURE; DIAGNOSTIC IMAGING; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HETEROTOPIA; HUMAN; NERVE CELL; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; REVIEW;

EID: 20044383749     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200040701     Document Type: Review

References (24)

1. Barkovich AJ, Kuzniecky RI, Jackson GD, et al: Classification system for malformations of cortical development: Update 2001. Neurology 2001;57:2168-2178.
2. Pilz DT, Matsumoto N, Minnerath SR, et al: LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998;7:2029-2037.
3. Gleeson JG, Luo RF, Grant PE, et al: Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 2000;47:265-269.
4. Hong SE, Shugart YY, Huang DT, et al: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000;26:93-96.
5. Kitamura K, Yanazawa M, Sugiyama N, et al: Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002;32:359-369.
6. Toyo-oka K, Shionoya A, Gambello MJ, et al: 14-3-3epsilon is important for neuronal migration by binding to NUDEL: A molecular explanation for Miller-Dieker syndrome. Nat Genet 2003;34:274-285.
7. Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB: LIS1: From cortical malformation to essential protein of cellular dynamics. Trends Neurosci 2001;24:489-492.
8. Gleeson JG, Lin PT, Flanagan LA, Walsh CA: Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron 1999;23:257-271.
9. Dobyns WB, Stratton RF, Parke JT, et al: Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J Pediatr 1983;102:552-558.
10. Reiner O, Carrozzo R, Shen Y, et al: Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993;364:717-721.
11. Lo Nigro C, Chong CS, Smith AC, et al: Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 1997;6:157-164.
12. 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; 92:51-61.
13. Gleeson JG, Allen EM, 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;92:63-72.
14. Dobyns WB, Truwit CL, Ross ME, et al: Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999;53:270-277.
15. Sossey-Alaoui K, Hartung AJ, Guerrini R, et al: Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet 1998;7:1327-1332.
16. Cardoso C, Leventer RJ, Ward HL, et al: Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17pl3.3. Am J Hum Genet 2003; 72:918-930.
17. Cardoso C, Leventer RJ, Matsumoto N, et al: The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 2000;9:3019-3028.
18. Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB: LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology 2001;57:416-422.
19. Caspi M, Coquelle FM, Koifman C, et al: LIS1 missense mutations: Variable phenotypes result from unpredictable alterations in biochemical and cellular properties. J Biol Chem 2003;278:38740-38748.
20. Kato M, Kanai M, Soma O, et al: Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis. Ann Neurol 2001;50:547-551.
21. Sicca F, Kelemen A, Genton P, et al: Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 2003;61:1042-1046.
22. 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;9:5-12.
23. Sapir T, Horesh D, Caspi M, et al: Doublecortin mutations cluster in evolutionarily conserved functional domains. Hum Mol Genet 2000;9:703-712.
24. Taylor KR, Holzer AK, Bazan JF, et al: Patient mutations in doublecortin define a repeated tubulin-binding domain. J Biol Chem 2000;275:34442-34450.