Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a death newborn and identification of a new mutation in the exon 29 of the CHD7 gene


CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities) is an autosomal dominant disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the CHD7 gene are the major cause of CHARGE syndrome. Here, we present a family who sought genetic counseling because of a newborn with dysmorphic features suggesting CHARGE syndrome. The baby died three months later. Afterwards, a molecular genetic testing for sequence analysis of the CHD7 coding region was performed with DNA extracted from umbilical cord blood stem cells confirming the diagnosis of CHARGE syndrome. Although the diagnosis is first suspected clinically, in the newborn case presented here, we illustrate the importance of the molecular testing to confirm the diagnosis, and to enable precise genetic counseling. Also, even though cord blood has been stored in private banks for more than ten years, there is as yet no routine clinical application of autologous (self-donation) hematopoietic stem cells from cord blood. Now, we illustrate for the first time the usefulness of umbilical cord blood stem cells for diagnosis and genetic counseling in a case that involve a dead propositus.

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Montano, N. , Quadrelli, A. , Milunsky, A. , Vaglio, A. and Quadrelli, R. (2012) Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a death newborn and identification of a new mutation in the exon 29 of the CHD7 gene. Stem Cell Discovery, 2, 1-4. doi: 10.4236/scd.2012.21001.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] Issekutz, K.A., Graham, Jr., J.M., Prasad, C., Smith, I.M. and Blake, K.D. (2005) An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. American Journal of Medical Genetics Part A, 133, 309-317. doi:10.1002/ajmg.a.30560
[2] Sanlaville, D. and Verloes, A. (2007) CHARGE syndrome: An update. European Journal of Medical Genetics, 15, 389-399.
[3] Jongmans, M.C., Admiraal, R.J., Van Der Donk, K.P., Vissers, L.E., et al. (2006) CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. Journal of Medical Genetics, 43, 306-314. doi:10.1136/jmg.2005.036061
[4] Zentner, G.E., Layman, W.S., Martin, D.M. and Scacheri, P.C. (2010) Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American Journal of Medical Genetics Part A, 152, 674-686. doi:10.1002/ajmg.a.33323
[5] Vissers, L.E., Van Ravenswaaij, C.M., Admiraal, R., et al. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36, 955-957. doi:10.1038/ng1407
[6] Johnson, D.S., Morrison, N., Grant, L., et al. (2006) Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. Journal of Medical Genetics, 43, 280-284. doi:10.1136/jmg.2005.032946
[7] Lalani, S.R., Safiullah, A.M., Fernbach, S.D., Harutyunyan, K.G., 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. doi:10.1086/500273
[8] Blake, K.D., Davenport, S.L., Hall, B.D., et al. (1998) CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics, 37, 159-173. doi:10.1177/000992289803700302
[9] Verloes, A. (2005) Updated diagnostic criteria for CHARGE syndrome: A proposal. American Journal of Medical Genetics Part A, 133, 306-308. doi:10.1002/ajmg.a.30559
[10] Sanlaville, D., Etchevers, H.C., Gonzales, M., Martinovic, J., Clément-Ziza, M., et al. (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Journal of Medical Genetics, 43, 211-217. doi:10.1136/jmg.2005.036160
[11] Ali, H. and Bahbahani, H. (2010) Umbilical cord blood stem cells—potential therapeutic tool for neural injuries and disorders. Acta Neurobiologiae Experimentalis, 70, 316-324.
[12] Watt, S. and Contreras, M. (2005) Stem cell medicine: Umbilical cord blood and its stem cell potential. Seminars in Fetal and Neonatal Medicine, 10, 209-220. doi:10.1016/j.siny.2005.02.001
[13] Reimann, V., Creutzig, U. and Kogler, G. (2009) Stem cells derived from cord blood in transplantation and regenerative medicine. Deutsches Aerzteblatt international, 106, 831-836.
[14] Verneris, M.R., Brunstein, C.G., Barker, J., Macmillan, M.L., Defor, T., McKenna, D.H., et al. (2009) Relapse risk after umbilical cord blood transplantation: Enhanced graft versus leukemia effect in recipients of tow units. Blood, 114, 4293-4299. doi:10.1182/blood-2009-05-220525

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