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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Author

Listed:
  • Kaya Bilgüvar

    (Yale University School of Medicine
    Yale University School of Medicine
    Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

  • Ali Kemal Öztürk

    (Yale University School of Medicine
    Yale University School of Medicine
    Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

  • Angeliki Louvi

    (Yale University School of Medicine
    Yale University School of Medicine
    Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

  • Kenneth Y. Kwan

    (Yale University School of Medicine
    Kavli Institute for Neuroscience, Yale University School of Medicine)

  • Murim Choi

    (Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

  • Burak Tatlı

    (Istanbul University Istanbul Medical Faculty)

  • Dilek Yalnızoğlu

    (Hacettepe University School of Medicine)

  • Beyhan Tüysüz

    (Istanbul University Cerrahpasa Faculty of Medicine)

  • Ahmet Okay Çağlayan

    (Kayseri Education and Research Hospital)

  • Sarenur Gökben

    (Ege University Faculty of Medicine)

  • Hande Kaymakçalan

    (Faculty of Arts and Sciences, Bahcesehir University)

  • Tanyeri Barak

    (Yale University School of Medicine
    Yale University School of Medicine
    Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

  • Mehmet Bakırcıoğlu

    (Yale University School of Medicine
    Yale University School of Medicine
    Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

  • Katsuhito Yasuno

    (Yale University School of Medicine
    Yale University School of Medicine
    Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

  • Winson Ho

    (Yale University School of Medicine
    Yale University School of Medicine
    Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

  • Stephan Sanders

    (Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine
    Yale University School of Medicine
    Child Study Center, Yale University School of Medicine)

  • Ying Zhu

    (Yale University School of Medicine
    Kavli Institute for Neuroscience, Yale University School of Medicine)

  • Sanem Yılmaz

    (Ege University Faculty of Medicine)

  • Alp Dinçer

    (Acibadem University School of Medicine)

  • Michele H. Johnson

    (Yale University School of Medicine
    Yale University School of Medicine
    Yale University School of Medicine)

  • Richard A. Bronen

    (Yale University School of Medicine
    Yale University School of Medicine)

  • Naci Koçer

    (Istanbul University Cerrahpasa Faculty of Medicine)

  • Hüseyin Per

    (Erciyes University School of Medicine)

  • Shrikant Mane

    (Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine
    Yale Center for Genome Analysis, Yale University School of Medicine)

  • Mehmet Necmettin Pamir

    (Acibadem University School of Medicine)

  • Cengiz Yalçınkaya

    (Istanbul University Cerrahpasa Faculty of Medicine)

  • Sefer Kumandaş

    (Erciyes University School of Medicine)

  • Meral Topçu

    (Hacettepe University School of Medicine)

  • Meral Özmen

    (Istanbul University Istanbul Medical Faculty)

  • Nenad Šestan

    (Yale University School of Medicine
    Kavli Institute for Neuroscience, Yale University School of Medicine)

  • Richard P. Lifton

    (Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine
    Howard Hughes Medical Institute, Yale University School of Medicine)

  • Matthew W. State

    (Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine
    Yale University School of Medicine
    Child Study Center, Yale University School of Medicine)

  • Murat Günel

    (Yale University School of Medicine
    Yale University School of Medicine
    Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine)

Abstract

Gene linked to brain malformation The identification of genetic loci linked to abnormal cortical development is complicated by genetic heterogeneity, small family sizes and diagnostic classifications that do not reflect molecular pathogenesis. These obstacles have been overcome in a study using whole-exome sequencing. Recessive mutations in the WD repeat domain 62 (WDR62) gene are shown to cause a wide spectrum of seemingly disparate brain abnormalities, including microcephaly, pachygyria and, in one instance, cerebellar hypoplasia. Unlike other known microcephaly genes, WDR62 does not associate with centrosomes; it is predominantly nuclear in localization and is expressed transiently in the neocortex during embryonic neurogenesis.

Suggested Citation

  • Kaya Bilgüvar & Ali Kemal Öztürk & Angeliki Louvi & Kenneth Y. Kwan & Murim Choi & Burak Tatlı & Dilek Yalnızoğlu & Beyhan Tüysüz & Ahmet Okay Çağlayan & Sarenur Gökben & Hande Kaymakçalan & Tanyeri B, 2010. "Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations," Nature, Nature, vol. 467(7312), pages 207-210, September.
    • Handle: RePEc:nat:nature:v:467:y:2010:i:7312:d:10.1038_nature09327
    DOI: 10.1038/nature09327
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