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Normal Function
The WDR62 gene provides instructions for making a protein that is involved in cell division and cell movement (migration). This protein is particularly important for the division and migration of cells in the developing brain. Studies suggest that the WDR62 protein helps maintain the orderly division of early brain cells called neural progenitor cells, which ultimately give rise to mature nerve cells (neurons).
During brain development, the WDR62 protein is also involved in the migration and organization of neurons in the outer surface of the brain (cerebral cortex). This outer layer of the brain carries out many important functions, such as sensation, voluntary muscle movement, thought, planning, and memory. The neurons that make up the cerebral cortex are arranged into many folds and grooves. The proper migration and organization of neurons is necessary for the development of these folds and grooves, which allow the cerebral cortex to perform its functions.
Health Conditions Related to Genetic Changes
Autosomal recessive primary microcephaly
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the WDR62 gene are the second most common cause of autosomal recessive primary microcephaly. This condition is characterized by an unusually small head size (microcephaly) that is noticeable at birth or soon after. Affected individuals typically have intellectual disabilities, which can range from mild to severe.
The pathogenic variants in the WDR62 gene that are associated with autosomal recessive primary microcephaly cause cells to produce a version of the WDR62 protein that does not function properly. This impairs the division of neural progenitor cells in the developing brain. As a result, fewer mature neurons are formed, and affected individuals are born with an unusually small brain. The smaller brain size contributes to the smaller head size and the intellectual disabilities seen in people with this condition.
A shortage of functional WDR62 proteins can also impair the migration of cells in the developing brain. This can disrupt the organization of neurons in the cerebral cortex before birth, which prevents the normal folds and grooves of the brain from developing properly.
More About This Health ConditionOther Names for This Gene
- DKFZP434J046
- FLJ33298
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Ruaud L, Drunat S, Elmaleh-Berges M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Neurological outcome in WDR62 primary microcephaly. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25. Citation on PubMed
- Verloes A, Ruaud L, Drunat S, Passemard S. WDR62 Primary Microcephaly. 2022 Feb 17. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK578067/ Citation on PubMed
- Zhang W, Yang SL, Yang M, Herrlinger S, Shao Q, Collar JL, Fierro E, Shi Y, Liu A, Lu H, Herring BE, Guo ML, Buch S, Zhao Z, Xu J, Lu Z, Chen JF. Modeling microcephaly with cerebral organoids reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly in neural progenitors. Nat Commun. 2019 Jun 13;10(1):2612. doi: 10.1038/s41467-019-10497-2. Citation on PubMed
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