Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (124)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Pilz, D. T.
Right arrow Articles by Ross, M. E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Pilz, D. T.
Right arrow Articles by Ross, M. E.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 7, 2029-2037, Copyright © 1998 by Oxford University Press

ARTICLES

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

DT Pilz, N Matsumoto, S Minnerath, P Mills, JG Gleeson, KM Allen, CA Walsh, AJ Barkovich, WB Dobyns, DH Ledbetter and ME Ross
Department of Human Genetics, University of Chicago, 924 East 57th Street, R113, Chicago, IL 60637, USA.

Classical lissencephaly (LIS) is a neuronal migration disorder resulting in brain malformation, epilepsy and mental retardation. Deletions or mutations of LIS1 on 17p13.3 and mutations in XLIS ( DCX ) on Xq22.3-q23 produce LIS. Direct DNA sequencing of LIS1 and XLIS was performed in 25 children with sporadic LIS and no deletion of LIS1 by fluorescence in situ hybridization. Mutations of LIS1 were found by sequencing ( n = 8) and Southern blot ( n = 2) in a total of 10 patients (40%) of both sexes and mutations of XLIS in five males (20%). Combined with previous data, deletions or mutations of these two genes account for approximately 76% of isolated LIS. These data demonstrate that LIS1 and XLIS mutations cause the majority of, though not all, human LIS. The mutations in LIS1 were predicted to result in protein truncation in six of eight patients and splice site mutations in two, all of which disrupt one or more of the seven WD40 repeats contained in the LIS1 protein. Point mutations in XLIS identified the C-terminal serine/proline-rich region as potentially important for protein function. The patients with mutations were included in a genotype- phenotype analysis of 32 subjects with deletions or other mutations of these two genes. Whereas the brain malformation due to LIS1 mutations was more severe over the parietal and occipital regions, XLIS mutations produced the reverse gradient, which was more severe over the frontal cortex. The distinct LIS patterns suggest that LIS1 and XLIS may be part of overlapping, but distinct, signaling pathways that promote neuronal migration.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Arch NeurolHome page
Y. Saillour, N. Carion, C. Quelin, P.-L. Leger, N. Boddaert, C. Elie, A. Toutain, S. Mercier, M. A. Barthez, M. Milh, et al.
LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity
Arch Neurol, August 1, 2009; 66(8): 1007 - 1015.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
N Bahi-Buisson, K Poirier, N Boddaert, Y Saillour, L Castelnau, N Philip, G Buyse, L Villard, S Joriot, S Marret, et al.
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
J. Med. Genet., October 1, 2008; 45(10): 647 - 653.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
C. Fallet-Bianco, L. Loeuillet, K. Poirier, P. Loget, F. Chapon, L. Pasquier, Y. Saillour, C. Beldjord, J. Chelly, and F. Francis
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A
Brain, September 1, 2008; 131(9): 2304 - 2320.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
D Mei, R Lewis, E Parrini, L P Lazarou, C Marini, D T Pilz, and R Guerrini
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis
J. Med. Genet., June 1, 2008; 45(6): 355 - 361.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
H. H. Jung
Smooth mosaics: Genotype and phenotype in lissencephaly
Neurology, July 31, 2007; 69(5): 425 - 426.
[Full Text] [PDF]

Home page
 NeurologyHome page
G. Uyanik, D. J. Morris-Rosendahl, J. Stiegler, J. Klapecki, C. Gross, Y. Berman, P. Martin, L. Dey, S. Spranger, G. C. Korenke, et al.
Location and type of mutation in the LIS1 gene do not predict phenotypic severity
Neurology, July 31, 2007; 69(5): 442 - 447.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
D. Mei, E. Parrini, M. Pasqualetti, G. Tortorella, E. Franzoni, U. Giussani, C. Marini, S. Migliarini, and R. Guerrini
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia
Neurology, February 6, 2007; 68(6): 446 - 450.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Paracchini, A. Thomas, S. Castro, C. Lai, M. Paramasivam, Y. Wang, B. J. Keating, J. M. Taylor, D. F. Hacking, T. Scerri, et al.
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration
Hum. Mol. Genet., May 15, 2006; 15(10): 1659 - 1666.
[Abstract] [Full Text] [PDF]

Home page
 Cereb CortexHome page
S. Alcantara, E. Pozas, C. F. Ibanez, and E. Soriano
BDNF-modulated Spatial Organization of Cajal-Retzius and GABAergic Neurons in the Marginal Zone Plays a Role in the Development of Cortical Organization
Cereb Cortex, April 1, 2006; 16(4): 487 - 499.
[Abstract] [Full Text] [PDF]

Home page
 RadioGraphicsHome page
S. Ghai, K. W. Fong, A. Toi, D. Chitayat, S. Pantazi, and S. Blaser
Prenatal US and MR Imaging Findings of Lissencephaly: Review of Fetal Cerebral Sulcal Development.
RadioGraphics, March 1, 2006; 26(2): 389 - 405.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
A. J. Barkovich, R. I. Kuzniecky, G. D. Jackson, R. Guerrini, and W. B. Dobyns
A developmental and genetic classification for malformations of cortical development
Neurology, December 27, 2005; 65(12): 1873 - 1887.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
R. J. Leventer
Topical Review: Genotype-Phenotype Correlation in Lissencephaly and Subcortical Band Heterotopia: The Key Questions Answered
J Child Neurol, April 1, 2005; 20(4): 307 - 312.
[Abstract] [PDF]

Home page
 J. Biol. Chem.Home page
A. M. Edelman, W.-Y. Kim, D. Higgins, E. G. Goldstein, M. Oberdoerster, and W. Sigurdson
Doublecortin Kinase-2, a Novel Doublecortin-related Protein Kinase Associated with Terminal Segments of Axons and Dendrites
J. Biol. Chem., March 4, 2005; 280(9): 8531 - 8543.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
R. J. Leventer
Topical Review: Genotype-Phenotype Correlation in Lissencephaly and Subcortical Band Heterotopia: The Key Questions Answered
J Child Neurol, March 1, 2004; 19(3): 307 - 312.
[Abstract] [PDF]

Home page
 NeurologyHome page
F. Sicca, A. Kelemen, P. Genton, S. Das, D. Mei, F. Moro, W.B. Dobyns, and R. Guerrini
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
Neurology, October 28, 2003; 61(8): 1042 - 1046.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. Caspi, F. M. Coquelle, C. Koifman, T. Levy, H. Arai, J. Aoki, J. R. De Mey, and O. Reiner
LIS1 Missense Mutations: VARIABLE PHENOTYPES RESULT FROM UNPREDICTABLE ALTERATIONS IN BIOCHEMICAL AND CELLULAR PROPERTIES
J. Biol. Chem., October 3, 2003; 278(40): 38740 - 38748.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Kato and W. B. Dobyns
Lissencephaly and the molecular basis of neuronal migration
Hum. Mol. Genet., April 2, 2003; 12(90001): R89 - 96.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
M. D. D'Agostino, A. Bernasconi, S. Das, A. Bastos, R. M. Valerio, A. Palmini, J. Costa da Costa, I. E. Scheffer, S. Berkovic, R. Guerrini, et al.
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females
Brain, November 1, 2002; 125(11): 2507 - 2522.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
J. C. Corbo, T. A. Deuel, J. M. Long, P. LaPorte, E. Tsai, A. Wynshaw-Boris, and C. A. Walsh
Doublecortin Is Required in Mice for Lamination of the Hippocampus But Not the Neocortex
J. Neurosci., September 1, 2002; 22(17): 7548 - 7557.
[Abstract] [Full Text] [PDF]

Home page
 NeuroscientistHome page
S. N. Roper and A. T. Yachnis
Book Review: Cortical Dysgenesis and Epilepsy
Neuroscientist, August 1, 2002; 8(4): 356 - 371.
[Abstract] [PDF]

Home page
 NeurologyHome page
N. P. Poolos, S. Das, G. D. Clark, D. Lardizabal, J. L. Noebels, E. Wyllie, and W. B. Dobyns
Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX
Neurology, May 28, 2002; 58(10): 1559 - 1562.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
W. Bi, J. Yan, P. Stankiewicz, S.-S. Park, K. Walz, C. F. Boerkoel, L. Potocki, L. G. Shaffer, K. Devriendt, M. J.M. Nowaczyk, et al.
Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse
Genome Res., May 1, 2002; 12(5): 713 - 728.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. I. Rees, T. M. Lewis, J. B. J. Kwok, G. R. Mortier, P. Govaert, R. G. Snell, P. R. Schofield, and M. J. Owen
Hyperekplexia associated with compound heterozygote mutations in the {beta}-subunit of the human inhibitory glycine receptor (GLRB)
Hum. Mol. Genet., April 1, 2002; 11(7): 853 - 860.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
A. J. Barkovich, R. I. Kuzniecky, G. D. Jackson, R. Guerrini, and W. B. Dobyns
Classification system for malformations of cortical development: Update 2001
Neurology, December 26, 2001; 57(12): 2168 - 2178.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
R. J. Leventer, C. Cardoso, D. H. Ledbetter, and W. B. Dobyns
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
Neurology, August 14, 2001; 57(3): 416 - 422.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
L. Demelas, G. Serra, M. Conti, A. Achene, C. Mastropaolo, N. Matsumoto, L.L. Dudlicek, P.L. Mills, W.B. Dobyns, D.H. Ledbetter, et al.
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene
Neurology, July 24, 2001; 57(2): 327 - 330.
[Abstract] [Full Text] [PDF]

Home page
 Genes Dev.Home page
A. Wynshaw-Boris and M. J. Gambello
LIS1 and dynein motor function in neuronal migration and development
Genes & Dev., March 15, 2001; 15(6): 639 - 651.
[Full Text]

Home page
 J. Neurosci.Home page
P. T. Lin, J. G. Gleeson, J. C. Corbo, L. Flanagan, and C. A. Walsh
DCAMKL1 Encodes a Protein Kinase with Homology to Doublecortin that Regulates Microtubule Polymerization
J. Neurosci., December 15, 2000; 20(24): 9152 - 9161.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
A. James Barkovich and R. I. Kuzniecky
Gray matter heterotopia
Neurology, December 12, 2000; 55(11): 1603 - 1608.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
Z. Pfund, H. T. Chugani, C. Juhasz, O. Muzik, M. E. Behen, D. C. Chugani, M. A. Nigro, G. L. Trock, and L. A. Squires
Lissencephaly: Fetal pattern of glucose metabolism on positron emission tomography?
Neurology, December 12, 2000; 55(11): 1683 - 1688.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. Cardoso, R. J. Leventer, N. Matsumoto, J. A. Kuc, M. B. Ramocki, S. K. Mewborn, L. L. Dudlicek, L. F. May, P. L. Mills, S. Das, et al.
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
Hum. Mol. Genet., December 1, 2000; 9(20): 3019 - 3028.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Caspi, R. Atlas, A. Kantor, T. Sapir, and O. Reiner
Interaction between LIS1 and doublecortin, two lissencephaly gene products
Hum. Mol. Genet., September 1, 2000; 9(15): 2205 - 2213.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. Sapir, D. Horesh, M. Caspi, R. Atlas, H. A. Burgess, S. G. Wolf, F. Francis, J. Chelly, M. Elbaum, S. Pietrokovski, et al.
Doublecortin mutations cluster in evolutionarily conserved functional domains
Hum. Mol. Genet., March 22, 2000; 9(5): 703 - 712.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Neuroradiol.Home page
A. J. Barkovich
Morphologic Characteristics of Subcortical Heterotopia: MR Imaging Study
AJNR Am. J. Neuroradiol., February 1, 2000; 21(2): 290 - 295.
[Abstract] [Full Text]

Home page
 J. Biol. Chem.Home page
H. Manya, J. Aoki, H. Kato, J. Ishii, S. Hino, H. Arai, and K. Inoue
Biochemical Characterization of Various Catalytic Complexes of the Brain Platelet-activating Factor Acetylhydrolase
J. Biol. Chem., November 5, 1999; 274(45): 31827 - 31832.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
M. Mizuguchi, J. Qin, M. Yamada, K. Ikeda, and S. Takashima
High Expression of Doublecortin and KIAA0369 Protein in Fetal Brain Suggests Their Specific Role in Neuronal Migration
Am. J. Pathol., November 1, 1999; 155(5): 1713 - 1721.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
D. Horesh, T. Sapir, F. Francis, S. G. Wolf, M. Caspi, M. Elbaum, J. Chelly, and O. Reiner
Doublecortin, a stabilizer of microtubules
Hum. Mol. Genet., September 1, 1999; 8(9): 1599 - 1610.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
D. T. Pilz, J. Kuc, N. Matsumoto, J. Bodurtha, B. Bernadi, C. A. Tassinari, W. B. Dobyns, and D. H. Ledbetter
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
Hum. Mol. Genet., September 1, 1999; 8(9): 1757 - 1760.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
R. J. Leventer, E. M. Phelan, L. T. Coleman, M. J. Kean, G. D. Jackson, and A. S. Harvey
Clinical and imaging features of cortical malformations in childhood
Neurology, September 1, 1999; 53(4): 715 - 715.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
W. B. Dobyns, C. L. Truwit, M. E. Ross, N. Matsumoto, D. T. Pilz, D. H. Ledbetter, J. G. Gleeson, C. A. Walsh, and A. J. Barkovich
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
Neurology, July 1, 1999; 53(2): 270 - 270.
[Abstract] [Full Text]

Home page
 J. Biol. Chem.Home page
K. R. Taylor, A. K. Holzer, J. F. Bazan, C. A. Walsh, and J. G. Gleeson
Patient Mutations in Doublecortin Define a Repeated Tubulin-binding Domain
J. Biol. Chem., October 27, 2000; 275(44): 34442 - 34450.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
A. Cahana, T. Escamez, R. S. Nowakowski, N. L. Hayes, M. Giacobini, A. von Holst, O. Shmueli, T. Sapir, S. K. McConnell, W. Wurst, et al.
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization
PNAS, May 22, 2001; 98(11): 6429 - 6434.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.