| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
From the Departments of Human Genetics (Drs. Dobyns, Matsumoto, Pilz, and Ledbetter), Neurology and Pediatrics (Dr. Dobyns), The University of Chicago, IL; Departments of Neurology (Drs. Truwit and Ross) and Radiology (Dr. Truwit), University of Minnesota, Minneapolis, MN; Department of Neurology (Dr. Gleeson), Children’s Hospital, Boston, MA; Division of Neurogenetics (Drs. Gleeson and Walsh), Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA; Programs in Neurosciences and Biological and Biomedical Sciences (Dr. Walsh), Harvard Medical School, Boston, MA; and the Departments of Radiology (Neuroradiology), Neurology, and Pediatrics (Dr. Barkovich), University of California, San Francisco, CA.
Address correspondence and reprint requests to Dr. W.B. Dobyns, Department of Human Genetics, The University of Chicago, 5841 S. Maryland Ave., Rm. L041, M/C 2050, Chicago, IL 60637.
BACKGROUND: Classical lissencephaly or "smooth brain" is a human brain malformation that consists of diffuse agyria and pachygyria. Two genes associated with classical lissencephaly have recently been cloned—LIS1 from chromosome 17p13.3 and XLIS (also called DCX) from Xq22.3-q23.
OBJECTIVE: We performed genotype-phenotype analysis in children with lissencephaly associated with mutations of different genes.
METHODS: We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations.
RESULTS: We found consistent differences in the gyral patterns, with the malformation more severe posteriorly in individuals with LIS1 mutations and more severe anteriorly in individuals with XLIS mutations. Thus, mutations of LIS1 are associated with a posterior-to-anterior gradient of lissencephaly, whereas mutations of XLIS are associated with an anterior-to-posterior gradient. We also confirmed differences in severity between MDS and ILS17. Hypoplasia of the cerebellar vermis proved to be more common with XLIS mutations.
CONCLUSION: It is often possible to predict the gene mutation from careful review of brain imaging studies.
This article has been cited by other articles:
|
|
 |
|
  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]
|
|
|
|
 |
|
 P. Jissendi-Tchofo, S. Kara, and A. J. Barkovich Midbrain-hindbrain involvement in lissencephalies Neurology, February 3, 2009; 72(5): 410 - 418. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 R. Koul, R. Jain, and A. Chacko Pattern of Childhood Epilepsies With Neuronal Migrational Disorders in Oman J Child Neurol, November 1, 2006; 21(11): 945 - 949. [Abstract] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 H. Meng, S. D. Smith, K. Hager, M. Held, J. Liu, R. K. Olson, B. F. Pennington, J. C. DeFries, J. Gelernter, T. O'Reilly-Pol, et al. From The Cover: DCDC2 is associated with reading disability and modulates neuronal development in the brain PNAS, November 22, 2005; 102(47): 17053 - 17058. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Kanatani, H. Tabata, and K. Nakajima Topical Review: Neuronal Migration in Cortical Development J Child Neurol, April 1, 2005; 20(4): 274 - 279. [Abstract] [PDF]
|
|
|
|
|
|
R. Guerrini and T. Filippi Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis J Child Neurol, April 1, 2005; 20(4): 287 - 299. [Abstract] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
|
|
L. Sztriha and L. I. Al-Gazali Extreme Microcephaly With Agyria-Pachygyria, Partial Agenesis of the Corpus Callosum, and Pontocerebellar Dysplasia J Child Neurol, February 1, 2005; 20(2): 170 - 172. [Abstract] [PDF]
|
|
|
|
 |
|
 T. Tanaka, F. F. Serneo, C. Higgins, M. J. Gambello, A. Wynshaw-Boris, and J. G. Gleeson Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration J. Cell Biol., June 7, 2004; 165(5): 709 - 721. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. B. Pulitzer, E. M. Simon, T. M. Crombleholme, and J. A. Golden Prenatal MR Findings of the Middle Interhemispheric Variant of Holoprosencephaly AJNR Am. J. Neuroradiol., June 1, 2004; 25(6): 1034 - 1036. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. R. Torres, M. A. Montenegro, A. P. Marques-de-Faria, M. M. Guerreiro, F. Cendes, and I. Lopes-Cendes Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia Neurology, March 9, 2004; 62(5): 799 - 802. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Kanatani, H. Tabata, and K. Nakajima Topical Review: Neuronal Migration in Cortical Development J Child Neurol, March 1, 2004; 19(3): 274 - 279. [Abstract] [PDF]
|
|
|
|
|
|
R. Guerrini and T. Filippi Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis J Child Neurol, March 1, 2004; 19(3): 287 - 299. [Abstract] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 W K Chong Imaging of developmental intracranial abnormalities Imaging, October 1, 2002; 14(5): 374 - 379. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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]
|
|
|
|
|
|
A. James Barkovich and R. I. Kuzniecky Gray matter heterotopia Neurology, December 12, 2000; 55(11): 1603 - 1608. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
|
|
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 | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
