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      Recessive LAMC3 mutations cause malformations of occipital cortical development

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      Author(s)
      Barak, T.
      Kwan, K. Y.
      Louvi, A.
      Demirbilek, V.
      Saygi, S.
      Tüysüz, B.
      Choi, M.
      Boyacı, Hüseyin
      Doerschner, Katja
      Zhu, Y.
      Kaymakçalan, H.
      Yilmaz, S.
      Bakircioglu, M.
      Çağlayan, A. O.
      Öztürk, A.K.
      Yasuno, K.
      Brunken W. J.
      Atalar, Ergin
      Yalçnkaya, C.
      Dinçer, A.
      Bronen, R. A.
      Mane, S.
      Özçelik, Tayfun
      Lifton, R. P.
      Šestan, N.
      Bilgüvar, K.
      Günel, M.
      Date
      2011
      Source Title
      Nature Genetics
      Print ISSN
      1061-4036
      Publisher
      Nature Publishing Group
      Volume
      43
      Issue
      6
      Pages
      590 - 594
      Language
      English
      Type
      Article
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      Abstract
      The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral occipital cortical gyration abnormalities. By using whole-exome sequencing, we initially identified a homozygous 2-bp deletion in LAMC3, the laminin 33 gene, leading to an immediate premature termination codon. In two other affected individuals with nearly identical phenotypes, we identified a homozygous nonsense mutation and a compound heterozygous mutation. In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment. LAMC3 expression peaks between late gestation and late infancy, paralleling the expression of molecules that are important in dendritogenesis and synapse formation. The discovery of the molecular basis of this unusual occipital malformation furthers our understanding of the complex biology underlying the formation of cortical gyrations.
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      http://hdl.handle.net/11693/21906
      Published Version (Please cite this version)
      http://dx.doi.org/10.1038/ng.836
      Collections
      • Aysel Sabuncu Brain Research Center (BAM) 213
      • Department of Molecular Biology and Genetics 468
      • Department of Psychology 191
      • Nanotechnology Research Center (NANOTAM) 1063
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