Date: 28 Sep 2010
Prevalence of Genetic Testing in CHARGE Syndrome
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Parents of 145 individuals with a clinical diagnosis of CHARGE syndrome, ages 2 to 39 years, indicated in a survey whether their child had been tested for the CHD7 mutation, which is the only gene presently known to be associated with CHARGE. More than two thirds (68%) of the affected individuals had never been gene tested. Of the 46 who had been tested, 74% tested positive for the mutation. Half (50%) of those who underwent testing did so as a part of a conference blood draw by Baylor College of Medicine in 1999. Children who were tested were significantly younger than those who had not been tested. A second group of 43 parents were informally surveyed at a conference in 2009. More than half of their children had been tested, and nearly 70% were positive for the mutation. Reasons given by these parents for testing included confirming the diagnosis and assisting research. Reasons given for not testing included lack of opportunity, no known benefit, and lack of insurance coverage.
Hartshorne, T. S., & Cypher, A. L. (2004). Challenging behavior in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 7(2), 41–52.
Hittner, H. M., Hirsch, N. J., Kreh, G. M., & Rudolph, A. J. (1979). Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation, a syndrome. Journal of Pediatric Ophthalmology and Strabismus, 16, 122–128.PubMed
Hurd, E. A., Capers, P. L., Blauwkamp, M. N., Adams, M. E., Raphael, Y., Poucher, H. K., et al. (2007). Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mammalian Genome: Official Journal of the International Mammalian Genome Society, 18, 94–104.
Jongmans, M. C., Hoefsloot, L. H., van der Donk, K. P., Admiraal, R. J., Magee, A., van de Laar, I., et al. (2008). Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. American Journal of Medical Genetics. Part A, 146A, 43–50.CrossRefPubMed
Jyonouchi, S., McDonald-McGinn, D. M., Bale, S., Zackai, E. H., & Sullivan, K. E. (2009). CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics, 123, 871–877.CrossRef
Layman, W. S., McEwen, D. P., Beyer, L. A., Lalani, S. R., Fernbach, S. D., Oh, E., et al. (2009). Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Human Molecular Genetics, 18, 1909–1923.
National Consortium on Deaf-Blindness (2009). The 2008 National Child Count of Children and Youth who are deaf-blind. Retrieved from http://www.nationaldb.org/documents/products/2008-Census-Tables.pdf, October.
Palmer, C. G. S., Martinez, A., Fox, M., Zhou, J., Shapiro, N., Sininger, Y., et al. (2009). A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of hearing infants. American Journal of Medical Genetics, 149A, 1169–1182.CrossRefPubMed
Whitmarsh, I., Davis, A. M., Skinner, D., & Bailey, D. B. (2007). A place for genetic uncertainty: parents valuing an unknown in the meaning of disease. Social Science & Medicine, 65, 1082–1093.CrossRef
- Prevalence of Genetic Testing in CHARGE Syndrome
Journal of Genetic Counseling
Volume 20, Issue 1 , pp 49-57
- Cover Date
- Print ISSN
- Online ISSN
- Springer US
- Additional Links
- CHARGE syndrome
- Genetic testing
- Clinical diagnosis
- Genetic counseling
- Industry Sectors
- Author Affiliations
- 1. Central Michigan University, Mount Pleasant, MI, USA
- 3. Psychology Department, Central Michigan University, Mount Pleasant, MI, 48859, USA
- 2. Department of Genetics, University of Groningen, Groningen, Netherlands