Researchers at Mount Sinai School of Medicine have validated new genetic links for sagittal craniosynostosis, a common birth defect in which the bones that form the sides and top of the skull, fuse prematurely.

New York, NY (PRWEB) November 18, 2012

Craniosynostosis is one of the ten most common birth defects, occurring in about 1 out of every 2,500 live births. The sagittal form of craniosynostosis, which impedes growth of the skull so that the shape becomes elongated, occurs in about half the cases, or 1 in 5,000 live births. Unless it is treated surgically to release pressure on the brain within the first year of life, it interferes with brain growth causing neurologic deficits. Non-syndromic sagittal craniosynostosis is not associated with other abnormalities.

Until now, efforts to improve the health outcomes of infants born with sagittal craniosynostosis have been limited to surgery performed by neurosurgical and plastic surgery teams. But researchers have been focusing on the contribution of genetics, as well as environmental triggers.

To investigate the genetic associations, the International Craniosynostosis Consortium studied 130 trios (the affected child and both parents). Very strong associations for genetic markers near the BMP2 [bone morphogenetic protein] gene on chromosome 7 and also within the BBS9 [Bardet-Biedel syndrome 9] gene on chromosome 20 were found, and we replicated it with 172 cases and 548 controls said Ethylin Wang Jabs, MD, PhD, Professor of Genetics and Genomic Sciences, Developmental and Regenerative Biology, and Pediatrics at Mount Sinai School of Medicine. This association suggests that individuals carrying these genetic markers may have more than a four-fold risk of having sagittal craniosynostosis, added Inga Peter, PhD, Associate Professor of Genetics and Genomic Sciences. To find so much power, this is a big breakthrough.

The findings open the door to more genetic research. Investigators will pursue sequencing studies, perhaps finding other loci and genes of interest, Dr. Jabs added.

Other Mount Sinai coauthors include Monica Erazo, Xiaoqian Ye, Edmond Ainehsazan, Lisong Shi, and Peter J. Taub.

The National Institutes of Health and Centers for Disease Control and Prevention supported this research. Genotyping was performed at the Center for Inherited Disease Research at the National Institutes of Health. Participants were recruited and evaluated through the collaborative effort of the International Craniosynostosis Consortium.

One of the first of its kind in the New York area, Mount Sinais Congenital Anomalies and Craniofacial Program led by Dr. Jabs has been at the forefront of genetics and clinical research in congenital abnormalities, especially those of the head, neck, and limbs. Patients are seen by clinical geneticists that are experts in dysmorphology as well as by the Craniofacial and Cleft Clinic with a multidisciplinary team of geneticists, pediatricians, speech therapists, dentists, otolaryngologists, plastic surgery, maxillofacial surgeons, neurosurgery, and ophthalmologists, co-directed by Drs. Lester Silver and Peter Taub. The research focus of Dr. Jabs' laboratory at Mount Sinai has been to increase our understanding of the molecular basis of human malformation disorders and to develop new preventive and therapeutic interventions.

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Common Cranial Birth Defect: Mount Sinai Researchers Validate Genetic Links

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