Study finds gene associated with craniosynostosis

Published on April 14, 2020

A new study published in Human Genetics suggests that craniosynostosis may be linked to a gene that plays a key role in the development of bone and cartilage.

Craniosynostosis is a congenital defect caused by the premature closure of one or more of an infant’s cranial vault sutures, which can result in intracranial pressure as the infant’s brain grows. The research team looked at children where only the metopic suture, a midline cranial suture, was affected.

In this study, researchers performed the first genome-wide association study (GWAS) for metopic craniosynostosis using genetic specimens from children with metopic craniosynostosis and their parents. They also performed a replication study using genetic specimens from an independent group of children with and without metopic craniosynostosis, along with additional laboratory studies to confirm their GWAS findings.

A portrait of Paul Romitti of the University of Iowa College of Public Health.
Paul Romitti

The GWAS identified a variant, rs6127972, in the bone morphogenetic protein 7 (BMP7) gene, which was significantly and reproducibly associated with metopic craniosynostosis. BMP7 plays a key role in the transformation of mesenchymal cells into bone and cartilage.

Dr. Paul Romitti, professor of epidemiology in the University of Iowa College of Public Health and a principal investigator and co-senior author of the study, says that the study provides important insights into genetic factors that contribute to craniosynostosis.

“It follows on our earlier findings of genetic factors associated with another midline craniosynostosis, sagittal craniosynostosis,” Dr. Romitti says. “Together, metopic and sagittal craniosynostosis account for almost 75% of all craniosynostosis diagnosed.”

Romitti also notes that this is the first study to identify BMP7 as being associated with metopic craniosynostosis; thus, future research is necessary. Co-authors at the University of Iowa who contributed to this research were Dr. Kristin Conway in the College of Public Health and Dr. Val Sheffield in the Carver College of Medicine.