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International team discovers likely basis of birth defect causing premature skull closure in infants
Date:11/18/2012

ngs were replicated in another population of 172 cases of children with the condition and 548 unrelated controls. The extensive international collaboration came about because of the desire to include as many cases as possible worldwide to strengthen the findings.

"No matter how we analyzed the data ― whether we included familial cases, cases with other minor anomalies, or mixed children of different ethnic groups together, these two genetic factors were highly significant," said Boyadjiev. "This provides strong evidence that non-syndromic sagittal craniosynostosis has a major genetic component and identifies where the problem is likely to originate."

Boyadjiev added that the genetic differences do not fully explain the development of the condition and that other genes and environmental factors are also likely important. He likened the condition to spina bifida: Infants who develop this defect in their spine are known to have a genetic propensity, but vitamin supplementation with folic acid of pregnant women can prevent many cases. He plans to extend the research to find the exact disease-causing genetic variants and to study other types of craniosynostosis in various ethnic groups. Boyadjiev also will search for a marker in the blood of expectant mothers to identify fetuses at risk for craniosynostosis, which one day may lead to an intervention during pregnancy to prevent craniosynostosis.

"The identification of two biologically plausible candidate genes affecting susceptibility to non-syndromic sagittal craniosynostosis provides promising leads in the search for understanding how these conditions develop," said Emily Harris, chief of the translational genomics research branch at the National Institutes of Health's Institute of Dental and Craniofacial Research.


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Contact: Phyllis Brown
phyllis.brown@ucdmc.ucdavis.edu
916-734-9023
University of California - Davis Health System
Source:Eurekalert

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