RGD Reference Report - Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. - Rat Genome Database
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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

Authors: Murdock, DR  Clark, GD  Bainbridge, MN  Newsham, I  Wu, YQ  Muzny, DM  Cheung, SW  Gibbs, RA  Ramocki, MB 
Citation: Murdock DR, etal., Am J Med Genet A. 2011 Sep;155A(9):2071-7. doi: 10.1002/ajmg.a.34165. Epub 2011 Aug 10.
RGD ID: 11541050
Pubmed: (View Article at PubMed) PMID:21834044
DOI: Full-text: DOI:10.1002/ajmg.a.34165

Polymicrogyria is a disorder of neuronal development resulting in structurally abnormal cerebral hemispheres characterized by over-folding and abnormal lamination of the cerebral cortex. Polymicrogyria is frequently associated with severe neurologic deficits including intellectual disability, motor problems, and epilepsy. There are acquired and genetic causes of polymicrogyria, but most patients with a presumed genetic etiology lack a specific diagnosis. Here we report using whole-exome sequencing to identify compound heterozygous mutations in the WD repeat domain 62 (WDR62) gene as the cause of recurrent polymicrogyria in a sibling pair. Sanger sequencing confirmed that the siblings both inherited 1-bp (maternal allele) and 2-bp (paternal allele) frameshift deletions, which predict premature truncation of WDR62, a protein that has a role in early cortical development. The probands are from a non-consanguineous family of Northern European descent, suggesting that autosomal recessive PMG due to compound heterozygous mutation of WDR62 might be a relatively common cause of PMG in the population. Further studies to identify mutation frequency in the population are needed.

Annotation

Disease Annotations    
Polymicrogyria  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Wdr62  (WD repeat domain 62)

Genes (Mus musculus)
Wdr62  (WD repeat domain 62)

Genes (Homo sapiens)
WDR62  (WD repeat domain 62)


Additional Information