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The Gene That's "For" Nothing

Discover how WDR62 mutations link to severe brain malformations, highlighting the complexity of gene to phenotype relationships.

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Scientists like to warn you not to talk about "the gene for" a particular disease or trait.

I've done so in previous posts e.g. this one or this one.

But such scalding is not always very effective. We like simple explanations, so we like to find simple connections between genes and phenotypes.

Which is why a new paper is important. The authors, a large Turkish-American collaboration, found that mutations in a gene, WDR62, are associated with severe brain malformations in 9 patients. But what's interesting is that it doesn't cause any particular malformation.

If you have two faulty copies of this gene, your brain won't be normal, but what goes wrong varies widely amongst different people. Although the 9 cases had some features in common, such as microcephaly (small head and brain), in other respects they differed greatly.

As the authors put it, mutations in WDR62 cause

a wide spectrum ...

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