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CHARGE syndrome: 2005

Hall [1979] in a single author study andHittner et al. [1979] independently described a pattern of malformation involving choanal atresia, ocular colobomas, and a variety of other manifestations. Soon after, Pagon et al. [1981] named this condition CHARGE association, an acronym that highlighted the most consistent features of the disorder. These authors considered this pattern to be an association rather than a syndrome, suggesting that the collection of findings was not delineated enough to represent a syndromic or etiologic entity. Since then, many case series have been published, specific defining features have been added (see Verloes, this issue), diagnostic criteria have been proposed (and revised), and a lay advocacy group has been established and is flourishing. Moreover, epidemiologic investigations have determined a birth prevalence of about 1 in 8,500, indicating that CHARGE is commonly recognized in infants presenting with choanal atresia, ocular colobomas, and heart malformations. Because of the consistent recognizable pattern in a significant proportion of individuals labeled as CHARGE, Graham [2001] suggested that most patients had a recurrent-pattern syndrome rather than an association. He went on to suggest naming this more discrete entity, the Hall–Hittner syndrome. The use of the term syndrome byGraham suggested a single cause for the condition. Up until this past summer, the etiology of CHARGE syndrome remained elusive. ThenVissers et al. [2004] detected mutations of the gene, CHD7, in 10 of 17 well-characterized individuals with CHARGE ‘‘syndrome.’’ This discovery establishes CHARGE, in patients who meet suggested criteria, as a syndrome. CHD7 is an interesting gene, belonging to the chromodomain gene family. Future work, I am certain, will determine types of mutations, genotype–phenotype correlations and clarify the role of CHD7 in the pathogenesis of the malformations seen in CHARGE syndrome. This special issue of the Journal on CHARGE syndrome is led off by an interesting series of studies detailing the neurobehavioral features of individuals with the syndrome. Our guest editors for this series, Hartshorne, Hefner, and Davenport, nicely introduce the ensuing 11 studies in the opening section of the issue. These contributors are particularly unique for the AJMG in their detailed coverage of the behavior phenotype. However, this is an important theme for medical geneticists involved in themanagement of individuals with this syndrome. We have included several other studies in this issue, all on CHARGE syndrome, and all submitted to us over the last year. These works, together with the discovery of CHD7 as the causative gene in CHARGE syndrome, celebrate 25 years of interest by the medical genetics and pediatric communities in this important condition.