CHARGE Syndrome Canada
Newsletter
Spring 2007
Vol. 1 No.14 © copywrite
CHD7 GENE LINKED
TO SCOLIOSIS
PAST EDITION OF THE NEWSLETTER
CHD7 GENE LINKED TO SCOLIOSIS
Scoliosis is an abnormal curvature of the spine and effects about 3% of the general population. For some forms of the disorder, there has been no apparent cause, but is usually apparent during the growth spurts of adolescents. We know that scoliosis is also one of the minor clinical features in CHARGE syndrome, and is listed as one of the latent manifestions, along with early oesteoperosis in young adulthood (Blake, Prasad 2006).
For the first time a gene has been discovered which relates to scoliosis! It is the same gene that researchers found (Vissers, et al 2004) which relates to CHARGE syndrome -- CHD7.
This finding could lead researchers to understand how the gene affects spinal development. With screening for the gene, it could be possible that early remediation and treatment of scoliosis could prevent more serious complications later in life.
Researchers describe the gene defect as a mutation in the non-coding region, meaning the error did not disrupt production of the CHD7 protein. The binding of a molecule that controls if a gene is turned on or not was created by this defect, and in this case the gene is turned off more often which reduces the amount of CHD7 protein that is produced. This correlates with how scoliosis will progress, because the onset is gradual.
Addtional families who have scoliosis and no other medical condition will be sought to further research this disorder, Research was a combined effort from Washington University School of Medicine in St. Loius, in collaboration with University of Texas Southwestern Medical Center, Texas Scottish Rite Hospital for Children in Dallas, the Rutgers State University of New Jersey, and finally the University of Iowa. Carol Wise of Scottish Rite Hospital led the research which involved the data from 58 families.
Ann Gloyn, Education Specialist
References
Blake, Dr. Kim D and Dr. Chitra Prasad (2006); CHARGE syndrome; Orphanet Journal Rare Dis 1:34
Medical News Today - Genetics News - (June 29 2007) First Gene Linked to Scoliosis Identified By Scientists
found on the world wide web
Gae, Xiaochong, et al; (2007) CHD7Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Scoliosis; March 12 online
Vissers, Lelm et al; (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics online 8/08/04.
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