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

This release is available in Chinese on EurekAlert! Chinese.

(SACRAMENTO, Calif.) -- An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic craniosynostosis ― premature closure of the bony plates of the skull.

"We have discovered two genetic factors that are strongly associated with the most common form of premature closure of the skull," said Simeon Boyadjiev, professor of pediatrics and genetics, principal investigator for the study and leader of the International Craniosynostosis Consortium.

"These findings may one day lead to prenatal screening and diagnostic tests for this condition or early interventions to prevent it," said Boyadjiev, who is a researcher affiliated with the UC Davis MIND Institute.

The study, "A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis near BMP2 and within BBS9," is published online today in the journal, Nature Genetics.

During fetal and early child development, the skull is made of separate bony plates that allow for growth of the head. The borders between the plates do not normally fuse completely until a child is about 2 years old, leaving temporary "soft spots" at the intersection of the seams.

If the bones fuse too early ― the condition called craniosynostosis ― a child will develop an abnormally shaped head. Left untreated, the disorder causes complications due to brain compression, such as neurologic and visual problems and learning disabilities. Typically, craniosynostosis requires extensive neurosurgical correction.

About 20 percent of case
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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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