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KMID : 1130320140570010046
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Korean Journal of Pediatrics
2014 Volume.57 No. 1 p.46 ~ p.49
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Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome
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Kim Yeon-Kyung
Lee Ho-Seok
Yu Jung-Seok
Ahn Kang-Mo
Ki Chang-Seok
Kim Ji-Hyun
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Abstract
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CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNAbinding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein 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 twentyeight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a 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 counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.
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KEYWORD
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CHARGE syndrome, CHD7, Mutation
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