Scientists have identified mutations in a gene that cause reduced brain and body size, reports a paper to be published online in Nature Genetics.
Andrew Jackson and colleagues studied individuals with Seckel syndrome, which is characterized by growth retardation in the womb, severe proportionate short stature, and markedly reduced brain size or microcephaly. They had previously shown that some affected individuals have mutations in a gene called ATR, but these mutations did not account for everyone with the syndrome.
The authors found mutations in a gene called PCNT, encoding a protein called pericentrin, in two families with Seckel syndrome. Pericentrin is a component of the centrosome, which organizes the cellular apparatus that ensures proper segregation of chromosomes during cell division. Other genes involved in centrosomal function have previously been found to be mutated in different forms of microcephaly, suggesting that it is essential for determining human brain size.
Andrew Jackson (Human Genetics Unit, Western General Hospital, Edinburgh, UK)
Abstract available online.
(C) Nature Genetics press release.
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