Mutations in the gene WDR62 are a cause of microcephaly — a neurodevelopment disorder that leads to a small brain size — according to two reports published online this week in Nature Genetics.
Human microcephaly is a condition that is characterized by an abnormally small head circumference because of problems during brain development. Microcephaly may be obvious at birth or may develop in early childhood. There is no treatment for microcephaly and prognosis is variable. Some individuals may be severely disabled and others will only have mild disability.
In two independent studies, C. Geoffrey Woods, Christopher Walsh and their respective colleagues report that mutations in the gene WDR62 cause inherited microcephaly. The research suggests that WDR62 is important for the growth of neuronal cells in the developing human brain.
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