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CHARGE association

MIM.214800 8q12.1

Monday 20 September 2004

Definition: CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness.

Synopsis

- coloboma
- heart malformations
- choanal atresia
- intra-uterine growth retardation (IUGR)
- genital hypoplasia
- ear malformations and/or deafness
- limb anomalies (30%)

  • monodactyly
  • tibial aplasia
  • bifid femora

Etiology

- germline mutations in the gene CHD7 coding for the chromodomain helicase DNA-binding protein-7 at 8q12.1(MIM.608892) (15300250)

Cytogenetics

- der(9)t(9;13) (11940088)
- der(6)t(4;6) (11940088)

See also

- malformative associations
- CHDs

References

- Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome. Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S. Int J Pediatr Otorhinolaryngol. 2010 Oct 11. PMID: 20943277

- Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype. Am J Med Genet A. 2007 Oct 15; PMID: 17937444

- Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Berges M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attie-Bitach T, Verloes A, Sanlaville D. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. Clin Genet. 2007 Aug;72(2):112-21. PMID: 17661815