Identification of a Case of CHARGE Syndrome

Abstract

CHARGE syndrome is a genetic disorder characterized by a specific and recognizable pattern of anomalies. It is estimated to occur in 1:10,000 births worldwide with various clinical manifestations. The major clinical features of CHARGE syndrome include ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The underlying defect is in the chromodomain helicase DNA-binding protein 7 (CHD7) gene, which is located on chromosome 8q12.1. Around 67% of the patients clinically diagnosed with CHARGE syndrome have CHD7 mutations4 . So far, five hundred and twenty-eight unique alterations of CHD7 have been identified so far with no prefential domain being affected. The CHD7 gene encodes an adenosine triphosphate (ATP) dependent protein that participates in chromatin organization and plays a predominant role in neural tissue during fetal development. Majority of the CHD7 gene mutations occurs de novo. Familial transmission and germline mosaicism have rarely been identified. Key Words: CHARGE Syndrome, CHD7, Coloboma.