CHARGE association
MIM.214800 8q12.1
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#