Top

Published in:

01-02-2011 | Original Research

Prevalence of Genetic Testing in CHARGE Syndrome

Authors: Timothy S. Hartshorne, Kasee K. Stratton, Conny M. A. van Ravenswaaij-Arts

Published in: Journal of Genetic Counseling | Issue 1/2011

Abstract

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.

Available only for authorised users

Aramaki, M., Udaka, T., Kosaki, R., Makita, Y., Okamoto, N., Yoshihashi, H., et al. (2006). Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. The Journal of Pediatrics, 148(3), 410–414.CrossRefPubMed

Bergman, J. E., de Wijs, I., Jongmans, M. C., Admiraal, R. J., Hoefsloot, L. H., & van Ravenswaaij-Arts, C. M. (2008). Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. European Journal of Medical Genetics, 51, 417–425.CrossRefPubMed

Blake, K. D., Davenport, S. L., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., et al. (1998). CHARGE association: an update and review for the primary pediatrician. Clinical Pediatrics, 37, 159–174.CrossRefPubMed

Bosman, E. A., Penn, A. C., Ambrose, J. C., Kettleborough, R., Stemple, D. L., & Steel, K. P. (2005). Multiple mutations in mouse CHD7 provide models for CHARGE syndrome. Human Molecular Genetics, 14(22), 3463–3476.CrossRefPubMed

Delahaye, A., Sznajer, Y., Lyonnet, S., Elmaleh-Berges, M., Delpierre, I., Audollent, S., et al. (2007). Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. Clinical Genetics, 72, 112–121.CrossRefPubMed

Gunther, D. F., Eugster, E., Zagar, A. J., Bryant, C. G., Davenport, M. L., & Quigley, C. A. (2004). Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life. Pediatrics, 114, 640–644.CrossRefPubMed

Hall, B. D. (1979). Choanal atresia and associated multiple anomalies. The Journal of Pediatrics, 95, 395–398.CrossRefPubMed

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

Ho, L., & Crabtree, G. R. (2010). Chromatin remodelling during development. Nature, 463, 474–484.CrossRefPubMed

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., Admiraal, R. J., van der Donk, K. P., Vissers, L. E., Baas, A. F., Kapusta, L., et al. (2006). CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. Journal of Medical Genetics, 43, 306–314.CrossRefPubMed

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

Jongmans, M. C., Ogata, T., Sato, N., Claahsen, H. L., van der Donk, K. P., Pitteloud, N., et al. (2009). CHD7 mutations in patients initially diagnosed with Kallmann Syndrome—the clinical overlap with CHARGE syndrome. Clinical Genetics, 75, 65–71.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

Lalani, S. R., Safiullah, A. M., Molinari, L. M., Fernbach, S. D., Martin, D. M., & Belmont, J. W. (2004). SEMA3E mutation in a patient with CHARGE syndrome. Journal of Medical Genetics, 41, e94.CrossRefPubMed

Lalani, S. R., Safiullah, A. M., Fernbach, S. D., Harutyunyan, K. G., Thaller, C., Peterson, L. E., et al. (2006). Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American Journal of Human Genetics, 78, 303–314.CrossRefPubMed

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.

Pagon, R. A., Graham, J. M., Jr., Zonana, J., & Yong, S. L. (1981). Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. The Journal of Pediatrics, 99, 223–227.CrossRefPubMed

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

Pauli, S., Pieper, L., Haberle, J., Grzmil, P., Burfeind, P., Steckel, M., et al. (2009). Proven germline mosaicism in a father of two children with CHARGE syndrome. Clinical Genetics, 75, 473–479.CrossRefPubMed

Salem-Hartshorne, N., & Jacob, S. (2005). Adaptive behavior in children with CHARGE syndrome. American Journal of Medical Genetics, 133A, 262–267.CrossRefPubMed

Sanlaville, D., & Verloes, A. (2007). CHARGE syndrome: an update. European Journal of Human Genetics, 15, 389–399.CrossRefPubMed

Schnetz, M. P., Bartels, C. F., Shastri, K., Balasubramanian, D., Zentner, G. E., Balaji, R., et al. (2009). Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. Genome Research, 19, 590–601.CrossRefPubMed

Thompson, B. A., Tremblay, V., Lin, G., & Bochar, D. A. (2008). CHD8 is an ATPdependent chromatin remodeling factor that regulates b-catenin target genes. Molecular and Cellular Biology, 28, 3894–3904.CrossRefPubMed

Twomey, J. G. (2006). Issues in genetic testing of children. American Journal of Maternal Child Nursing, 31(3), 156–163.CrossRefPubMed

Twomey, J. G., Bove, C., & Cassidy, D. (2008). Presymptomatic genetic testing in children for Neurofibromatosis 2. Journal of Pediatric Nursing, 23, 183–194.CrossRefPubMed

Verloes, A. (2005). Updated diagnostic criteria for CHARGE syndrome: a proposal. American Journal of Medical Genetics, 133A, 306–308.CrossRefPubMed

Vissers, L. E., van Ravenswaaij, C. M., Admiraal, R., Hurst, J. A., de Vries, B. B., Janssen, I. M., et al. (2004). Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36, 955–957.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

Wincent, J., Schulze, A., & Schoumans, J. (2009). Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. European Journal of Medical Genetics, 52, 271–272.CrossRefPubMed

Zentner, G. E., Layman, W. S., Martin, D. M., & Scacheri, P. C. (2010). Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American Journal of Medical Genetics. Part A, 152A, 674–686.CrossRefPubMed

Title: Prevalence of Genetic Testing in CHARGE Syndrome
Authors: Timothy S. Hartshorne
Kasee K. Stratton
Conny M. A. van Ravenswaaij-Arts
Publication date: 01-02-2011
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 1/2011
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-010-9328-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Prevalence of Genetic Testing in CHARGE Syndrome

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2011

Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome—A Review

“In Sickness and in Health”? Disclosures of Genetic Risks in Dating

Can We Make Assumptions About the Psychosocial Impact of Living as a Carrier, Based on Studies Assessing the Effects of Carrier Testing?

The Development of a Methodology for Examining the Process of Family Communication of Genetic Test Results

Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent’s Perspective

Presidential Address