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Seattle Children's Research Institute helps identify causes of sagittal craniosynostosis
Date:11/19/2012

d single nucleotide polymorphisms (SNPs) that were associated with the condition. SNPs are changes in DNA in which a nucleotide differs from the one normally in that position and can be used to identify genes linked to the disease.

The research team evaluated DNA, taken from blood or oral samples, of 214 cases and both of their parents, who did not have the condition. The final analysis came from a group of 130 children and their families.

During normal development, the bony plates of the skull are separate during fetal development and early infancy, which allows for growth of the skull. The borders where these bony plates intersect are known as sutures. The sagittal suture usually does not fuse until adulthood. If the midline suture at the top of the head closes too early, a child will develop sagittal craniosynostosis. Without surgical treatment, this can cause increased pressure within the skull, visual problems and learning disabilities.

Sagittal craniosynostosis affects about one in 5,000 newborns and boys are three to four times more likely than girls to have the condition. Prior research has suggested that the condition can recur in families, but the exact genetic causes have not been well understood.

"Our participation in this collaborative effort and our ongoing research into the biology of craniosynostosis will result in tangible changes in how we diagnose and treat craniosynostosis," Dr. Cunningham said.


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Contact: Kathy Porada
kathy.porada@seattlechildrens.org
Seattle Children's
Source:Eurekalert  

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