CHARGE Syndrome: An Indonesian Case Report

DOI: https://doi.org/10.14710/jbtr.v3i1.1225

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Article Info
Submitted: 23-05-2017
Published: 23-06-2017
Section: Case Reports
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Background: CHARGE syndrome is an autosomal dominant congenital and rare genetic disease.The prevalence of CHARGE syndrome approximately 1:12,000 births.In the previous study, the CHD7 gene mutation is responsible in about 2/3 cases of CHARGE syndrome.  The syn­drome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All defects are not seen in every case and a different spectrum of associations is seen in most of the cases.

Method: Case was undergone physical examination by experience pediatricians, pedigree construction, and other diagnostic procedure (X-ray, echo­cardiography, and multi slice computer tomography (MSCT) scan).

Results: A boy aged 2 years 9 months with clinical features with match major and minor criterias of CHARGE syndrome.

Conclusion: Based on clinical diagnostic criteria this case is fulfilling with definite CHARGE syndrome. 

Keywords

CHARGE syndrome, CHD7 gene, clinical criteria

  1. Jessica Juan Pramudita 
    Magister of Genetic Counseling, Faculty of Medicine, Diponegoro University, Semarang, Indonesisa, Indonesia
  2. Agustini Utari 
    Center for Bomedical Research (CEBIOR) Faculty of Medicine, Diponegoro University, Semarang, Indonesia Department of Pediatrics, Faculty of Medicine, Diponegoro Univeristy, Semarang, Indonesia, Indonesia
  3. Tri Indah Winarni 
    Center for Bomedical Research (CEBIOR) Faculty of Medicine, Diponegoro University, Semarang, Indonesia, Indonesia
  4. Sultana MH Faradz 
    Center for Bomedical Research (CEBIOR) Faculty of Medicine, Diponegoro University, Semarang, Indonesia, Indonesia
  1. Issekutz KA, Graham JM, Jr., Prasad C, Smith IM, Blake KD. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. American journal of medical genetics 2005;133A:309-17.
  2. Aramaki M, Udaka T, Kosaki R, et al. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 2006;148:410-4.
  3. Janssen N, Bergman JE, Swertz MA, et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat 2012;33:1149-60.
  4. Lalani SR, Safiullah AM, Fernbach SD, et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American journal of human genetics 2006;78:303-14.
  5. Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet 2005;14:3463-76.
  6. Hurd EA, Capers PL, Blauwkamp MN, et al. Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome 2007;18:94-104.
  7. Williams MS. Speculations on the pathogenesis of CHARGE syndrome. American journal of medical genetics 2005;133A:318-25.
  8. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature genetics 2004;36:955-7.
  9. Lalani SR, Hefner MA, Belmont JW, Davenport SLH. CHARGE Syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews(R). Seattle (WA), 1993.
  10. Blake KD, Prasad C. CHARGE syndrome. Orphanet journal of rare diseases 2006;1:34.
  11. Hall BD. Choanal atresia and associated multiple anomalies. The Journal of Pediatrics 1979;95:395-398.
  12. Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. Journal of pediatric ophthalmology and strabismus 1979;16:122-8.
  13. Pagon RA, Graham JM, Jr., Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981;99:223-7.
  14. Blake KD, Davenport SL, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clinical pediatrics 1998;37:159-73.
  15. Landry AM, Thompson DM. Laryngomalacia: disease presentation, spectrum, and management. International journal of pediatrics 2012;2012:753526.
  16. Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur J Hum Genet 2007;15:389-399.
  17. Trider CL, Arra-Robar A, van Ravenswaaij-Arts C, Blake K. Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). American journal of medical genetics 2017;173:684-691.