| Abstrakt: |
CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows variousclinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern ofanomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae,growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNAbindingprotein 7 (CHD7 ) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67%of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twentyeightpathogenic and unique CHD7 alterations have been identified so far. We describe a patient witha CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro)missense mutation, in the CHD7 gene. This finding will provide more information for genetic counselingand expand our understanding of the pathogenesis and development of CHARGE syndrome. [ABSTRACT FROM AUTHOR] |
