Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Open accessAbstract
The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging.
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Microcephaly is largely caused by mutations disrupting genes encoding centrosomal proteins: MCPH1, ASPM, CDK5RAP2, CENPJ, STIL, WDR62, CEP152, and CEP63.
“Microcephaly is largely caused by mutations that disrupt genes encoding centrosomal proteins: MCPH1, ASPM, CDK5RAP2, CENPJ, STIL, WDR62, CEP152, and CEP63 (Bilguvar et al., 2010; Bond et al., 2002; Bond et al., 2005; Guernsey et al., 2010; Jackson et al., 2002; Kumar et al., 2009; Nicholas et al., 2010; Sir et al., 2011; Yu et al., 2010).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Bilguvar et al., 2010
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Self-citation
- Authors
- Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., Kaymakçalan, H., Barak, T., Bakırcıoğlu, M., Yasuno, K., Ho, W., Sanders, S., Zhu, Y., Yılmaz, S., Dinçer, A., Johnson, M. H., Bronen, R. A., Koçer, N., Per, H., Mane, S., Pamir, M. N., Yalçınkaya, C., Kumandaş, S., Topçu, M., Özmen, M., Šestan, N., Lifton, R. P., State, M. W., & Günel, M.
- Affiliations
- Yale University (US)
- Hacettepe University (TR)
- Istanbul University-Cerrahpaşa (TR)
- Kayseri Eğitim ve Araştırma Hastanesi (TR)
- Ege University (TR)
- Bahçeşehir University (TR)
- Erciyes University (TR)
- Istanbul University (TR)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Lifton, Richard P.
- State, Matthew W.
- Günel, Murat
- ORCID
- Bilgüvar, Kaya
- Louvi, Angeliki
- Kwan, Kenneth Y.
- Choi, Murim
- Yalnızoğlu, Dilek
- Tüysüz, Beyhan
- Çağlayan, Ahmet Okay
- Gökben, Sarenur
- Kaymakçalan, Hande
- Barak, Tanyeri
- Yasuno, Katsuhito
- Ho, Winson
- Sanders, Stephan
- Zhu, Ying
- Yılmaz, Sanem
- Johnson, Michele H.
- Bronen, Richard A.
- Koçer, Naci
- Per, Hüseyin
- Mane, Shrikant
- Yalçınkaya, Cengiz
- Kumandaş, Sefer
- Topçu, Meral
- Özmen, Meral
- Šestan, Nenad
- Lifton, Richard P.
- State, Matthew W.
- Günel, Murat
- Venue
- Nature
- Published
- 2010-08-22
- Volume
- 467
- Issue
- 7312
- Pages
- 207-210
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3129007
- OpenAlex
- W2000766568
- Cited by
- 503
- References
- 26
- Citations by year
- 2026: 9 · 2025: 11 · 2024: 13 · 2023: 9 · 2022: 21 · 2021: 28 · 2020: 20 · 2019: 23 · 2018: 28 · 2017: 27 · 2016: 30 · 2015: 34 · 2014: 51 · 2013: 46 · 2012: 58
- FWCI
- 57.72
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Acibadem University Open Access Repository (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Hacettepe University Institutional Repository (hacettepe.edu.tr) (submittedVersion, other-oa)
- Funders
- Howard Hughes Medical Institute
- Yale University
- National Institutes of Health
- National Institute of Mental Health (UO1MH081896, U01MH081896)
- National Institute of Neurological Disorders and Stroke (RC2NS070477, U24NS051869)
- National Center for Research Resources (UL1 RR024139NIH, UL1RR024139)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- WDR62, recessive mutations, malformations of cortical development, microcephaly, pachygyria, cerebellar hypoplasia, corpus callosum hypoplasia, lissencephaly, schizencephaly, polymicrogyria, neurogenesis, neural progenitor proliferation, nuclear localization
- MeSH terms
- Animals, Base Sequence, Brain, Brain Diseases, DNA Mutational Analysis, Female, Genes, Recessive, Humans, Male, Microcephaly, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, Cell Cycle Proteins, Mice
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