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

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 Barak, Mehmet Bakırcıoğlu, Katsuhito Yasuno, Winson Ho, Stephan Sanders, Ying Zhu, Sanem Yılmaz, Alp Dinçer, Michele H. Johnson, Richard A. Bronen, Naci Koçer, Hüseyin Per, Shrikant Mane, Mehmet Necmettin Pamir, Cengiz Yalçınkaya, Sefer Kumandaş, Meral Topçu, Meral Özmen, Nenad Šestan, Richard P. Lifton (), Matthew W. State () and Murat Günel ()
Additional contact information
Kaya Bilgüvar: Yale University School of Medicine
Ali Kemal Öztürk: Yale University School of Medicine
Angeliki Louvi: Yale University School of Medicine
Kenneth Y. Kwan: 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
Mehmet Bakırcıoğlu: Yale University School of Medicine
Katsuhito Yasuno: Yale University School of Medicine
Winson Ho: Yale University School of Medicine
Stephan Sanders: Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine
Ying Zhu: 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
Richard A. Bronen: 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
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
Richard P. Lifton: Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine
Matthew W. State: Center for Human Genetics and Genomics and Program on Neurogenetics, Yale University School of Medicine
Murat Günel: Yale University School of Medicine

Nature, 2010, vol. 467, issue 7312, 207-210

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.

Date: 2010
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/nature09327 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:467:y:2010:i:7312:d:10.1038_nature09327

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature09327

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().