Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

American Journal of Human Genetics

Volumn 92, Issue 3, 2013, Pages 468-474

  Radmanesh, Farid ^a,b   Caglayan, Ahmet Okay ^c   Silhavy, Jennifer L ^a,b   Yilmaz, Cahide ^d   Cantagrel, Vincent ^a,b   Omar, Tarek ^e   Rosti, Başak ^a,b   Kaymakcalan, Hande ^f   Gabriel, Stacey ^g   Li, Mingfeng ^c   Šestan, Nenad ^c   Bilguvar, Kaya ^c   Dobyns, William B ^h,i   Zaki, Maha S ^j   Gunel, Murat ^c   Gleeson, Joseph G ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MUSTAFA KEMAL UNIVERSITY   (Turkey)

^e ALEXANDRIA UNIVERSITY   (Egypt)

^f BAHCESEHIR UNIVERSITY   (Turkey)

^g MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^h UNIVERSITY OF WASHINGTON   (United States)

ⁱ SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^j NATIONAL RESEARCH CENTRE   (Egypt)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LAMININ; LAMININ BETA 1; UNCLASSIFIED DRUG;

ARTICLE; BRAIN MALFORMATION; BRAIN STEM; CASE REPORT; CEREBELLUM DISEASE; CLINICAL FEATURE; COBBLESTONE BRAIN MALFORMATION; DYSPLASIA; ENCEPHALOCELE; EXOME; GENE DELETION; GENE EXPRESSION; GENE INSERTION; HETEROTOPIA; HUMAN; HYPOPLASIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WHITE MATTER;

BASEMENT MEMBRANE; BRAIN; CEREBELLUM; CEREBRAL CORTEX; ENCEPHALOCELE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; LAMININ; MALE; MUSCULAR DYSTROPHIES; NERVOUS SYSTEM MALFORMATIONS; NEUROGLIA; NEURONS; SEQUENCE DELETION; WALKER-WARBURG SYNDROME;

EID: 84876378045     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.02.005     Document Type: Article

References (43)

1. R. Guerrini, and E. Parrini Neuronal migration disorders Neurobiol. Dis. 38 2010 154 166
2. D.V. Hansen, J.H. Lui, P.R. Parker, and A.R. Kriegstein Neurogenic radial glia in the outer subventricular zone of human neocortex Nature 464 2010 554 561
3. J.A. Siegenthaler, and S.J. Pleasure We have got you 'covered': how the meninges control brain development Curr. Opin. Genet. Dev. 21 2011 249 255
4. C. Labelle-Dumais, D.J. Dilworth, E.P. Harrington, M. de Leau, D. Lyons, Z. Kabaeva, M.C. Manzini, W.B. Dobyns, C.A. Walsh, D.E. Michele, and D.B. Gould COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans PLoS Genet. 7 2011 e1002062
5. M. Costell, E. Gustafsson, A. Aszódi, M. Mörgelin, W. Bloch, E. Hunziker, K. Addicks, R. Timpl, and R. Fässler Perlecan maintains the integrity of cartilage and some basement membranes J. Cell Biol. 147 1999 1109 1122
6. R. Luo, S.J. Jeong, Z. Jin, N. Strokes, S. Li, and X. Piao G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination Proc. Natl. Acad. Sci. USA 108 2011 12925 12930
7. H.E. Beggs, D. Schahin-Reed, K. Zang, S. Goebbels, K.A. Nave, J. Gorski, K.R. Jones, D. Sretavan, and L.F. Reichardt FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies Neuron 40 2003 501 514
8. E. Georges-Labouesse, M. Mark, N. Messaddeq, and A. Gansmüller Essential role of alpha 6 integrins in cortical and retinal lamination Curr. Biol. 8 1998 983 986
9. D. Graus-Porta, S. Blaess, M. Senften, A. Littlewood-Evans, C. Damsky, Z. Huang, P. Orban, R. Klein, J.C. Schittny, and U. Müller Beta1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex Neuron 31 2001 367 379
10. P.T. Martin The dystroglycanopathies: the new disorders of O-linked glycosylation Semin. Pediatr. Neurol. 12 2005 152 158
11. L. Devisme, C. Bouchet, M. Gonzalès, E. Alanio, A. Bazin, B. Bessières, N. Bigi, P. Blanchet, D. Bonneau, and M. Bonnières Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies Brain 135 2012 469 482
12. E.C. Olson, and C.A. Walsh Smooth, rough and upside-down neocortical development Curr. Opin. Genet. Dev. 12 2002 320 327
13. G. Kerjan, and J.G. Gleeson Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly Trends Genet. 23 2007 623 630
14. C. Godfrey, A.R. Foley, E. Clement, and F. Muntoni Dystroglycanopathies: coming into focus Curr. Opin. Genet. Dev. 21 2011 278 285
15. W.B. Dobyns, M.A. Patton, R.F. Stratton, J.M. Mastrobattista, S.H. Blanton, and H. Northrup Cobblestone lissencephaly with normal eyes and muscle Neuropediatrics 27 1996 70 75
16. T. Okanishi, T. Ishikawa, S. Kobayashi, N. Ando, I. Nishino, H. Togari, and I. Nonaka Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: two sibling cases Brain Dev. 32 2010 342 346
17. C. Bouchet, M. Gonzales, S. Vuillaumier-Barrot, L. Devisme, C. Lebizec, E. Alanio, A. Bazin, B. Bessières-Grattagliano, N. Bigi, and P. Blanchet Molecular heterogeneity in fetal forms of type II lissencephaly Hum. Mutat. 28 2007 1020 1027
18. E. Mercuri, S. Messina, C. Bruno, M. Mora, E. Pegoraro, G.P. Comi, A. D'Amico, C. Aiello, R. Biancheri, and A. Berardinelli Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study Neurology 72 2009 1802 1809
19. M. Roediger, N. Miosge, and N. Gersdorff Tissue distribution of the laminin beta1 and beta2 chain during embryonic and fetal human development J. Mol. Histol. 41 2010 177 184
20. P. Jissendi-Tchofo, S. Kara, and A.J. Barkovich Midbrain-hindbrain involvement in lissencephalies Neurology 72 2009 410 418
21. A.J. Barkovich Developmental disorders of the midbrain and hindbrain Front. Neuroanat. 6 2012 7
22. G. Novarino, P. El-Fishawy, H. Kayserili, N.A. Meguid, E.M. Scott, J. Schroth, J.L. Silhavy, M. Kara, R.O. Khalil, and T. Ben-Omran Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy Science 338 2012 394 397
23. C.M. Carvalho, M.B. Ramocki, D. Pehlivan, L.M. Franco, C. Gonzaga-Jauregui, P. Fang, A. McCall, E.K. Pivnick, S. Hines-Dowell, and L.H. Seaver Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome Nat. Genet. 43 2011 1074 1081
24. S.S. Murray, A. Oliphant, R. Shen, C. McBride, R.J. Steeke, S.G. Shannon, T. Rubano, B.G. Kermani, J.B. Fan, M.S. Chee, and M.S. Hansen A highly informative SNP linkage panel for human genetic studies Nat. Methods 1 2004 113 117
25. J. Lee, and J.M. Gross Laminin beta1 and gamma1 containing laminins are essential for basement membrane integrity in the zebrafish eye Invest. Ophthalmol. Vis. Sci. 48 2007 2483 2490
26. K.A. Sharif, C. Li, and L.J. Gudas cis-acting DNA regulatory elements, including the retinoic acid response element, are required for tissue specific laminin B1 promoter/lacZ expression in transgenic mice Mech. Dev. 103 2001 13 25
27. K.A. Sharif, H. Baker, and L.J. Gudas Differential regulation of laminin b1 transgene expression in the neonatal and adult mouse brain Neuroscience 126 2004 967 978
28. L. Pulkkinen, A.M. Christiano, D. Gerecke, D.W. Wagman, R.E. Burgeson, M.R. Pittelkow, and J. Uitto A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa Genomics 24 1994 357 360
29. M. Zenker, T. Aigner, O. Wendler, T. Tralau, H. Müntefering, R. Fenski, S. Pitz, V. Schumacher, B. Royer-Pokora, and E. Wühl Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities Hum. Mol. Genet. 13 2004 2625 2632
30. F. Geranmayeh, E. Clement, L.H. Feng, C. Sewry, J. Pagan, R. Mein, S. Abbs, L. Brueton, A.M. Childs, and H. Jungbluth Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations Neuromuscul. Disord. 20 2010 241 250
31. T. Barak, K.Y. Kwan, A. Louvi, V. Demirbilek, S. Saygi, B. Tüysüz, M. Choi, H. Boyaci, K. Doerschner, and Y. Zhu Recessive LAMC3 mutations cause malformations of occipital cortical development Nat. Genet. 43 2011 590 594
32. S. Radner, C. Banos, G. Bachay, Y.N. Li, D.D. Hunter, W.J. Brunken, and K.T. Yee beta2 and gamma3 laminins are critical cortical basement membrane components: Ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia Dev. Neurobiol. 73 2013 209 229
33. H.J. Kang, Y.I. Kawasawa, F. Cheng, Y. Zhu, X. Xu, M. Li, A.M. Sousa, M. Pletikos, K.A. Meyer, and G. Sedmak Spatio-temporal transcriptome of the human brain Nature 478 2011 483 489
34. T. Inoue, M. Ogawa, K. Mikoshiba, and J. Aruga Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly J. Neurosci. 28 2008 4712 4725
35. I. Grinberg, H. Northrup, H. Ardinger, C. Prasad, W.B. Dobyns, and K.J. Millen Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation Nat. Genet. 36 2004 1053 1055
36. N. Bahi-Buisson, K. Poirier, N. Boddaert, C. Fallet-Bianco, N. Specchio, E. Bertini, O. Caglayan, K. Lascelles, C. Elie, and J. Rambaud GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex Brain 133 2010 3194 3209
37. E. Kohfeldt, T. Sasaki, W. Göhring, and R. Timpl Nidogen-2: a new basement membrane protein with diverse binding properties J. Mol. Biol. 282 1998 99 109
38. S.J. Jeong, S. Li, R. Luo, N. Strokes, and X. Piao Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination PLoS ONE 7 2012 e29767
39. S. Cappello, C.R. Böhringer, M. Bergami, K.K. Conzelmann, A. Ghanem, G.S. Tomassy, P. Arlotta, M. Mainardi, M. Allegra, and M. Caleo A radial glia-specific role of RhoA in double cortex formation Neuron 73 2012 911 924
40. Z.L. Chen, V. Haegeli, H. Yu, and S. Strickland Cortical deficiency of laminin gamma1 impairs the AKT/GSK-3beta signaling pathway and leads to defects in neurite outgrowth and neuronal migration Dev. Biol. 327 2009 158 168
41. M. Brasseur-Daudruy, P.H. Vivier, V. Ickowicz, D. Eurin, and E. Verspyck Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound Pediatr. Radiol. 42 2012 488 490
42. S. Vuillaumier-Barrot, C. Bouchet-Séraphin, M. Chelbi, L. Devisme, S. Quentin, S. Gazal, A. Laquerrière, C. Fallet-Bianco, P. Loget, and S. Odent Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly Am. J. Hum. Genet. 91 2012 1135 1143
43. A.L. Sertié, V. Sossi, A.A. Camargo, M. Zatz, C. Brahe, and M.R. Passos-Bueno Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome) Hum. Mol. Genet. 9 2000 2051 2058