CHARGE syndrome is an autosomal dominant disorder that occurs in approximately 1 in 12,000 births1.
The acronym CHARGE summarises six main clinical features: ocular Coloboma, Heart defects of any type, Atresia of the choaneae, Retardation, Genital and Ear anomalies2.
Errors in the chromodomain 7 (CHD7) gene were identified as being causative for the syndrome in around 60% of patients with a clinical diagnosis of CHARGE3. CHD7 is located in 8q12.1-q12.2 and is 189kb in size. The CHD7 protein plays a role in chromatin organisation and is a member of the chromodomain helicase DNA-binding (CHD) proteins. CHD7 has an important function in early embryonic development and is ubiquitously expressed in several foetal and adult tissues, including those affected in CHARGE syndrome3. Most CHD7 mutations are truncating, leading to haploinsufficiency, and are generally de novo3,4. Microdeletions (or microduplications) have been proposed to account for up to 10% of CHARGE patients5.
1. Kallen et al., Teratology 1999: 60: 334-343
2. Pagon RA et al., J Pediat 1981;99:223-7
3. Vissers LE et al., Nat Genet 2004;36:955-7
4. Jongmans MC et al., J Med Genet 2005;43:306-14
5. Bergman et al., Eur J Med Genet. 2008; 51(5):417-25
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