Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome.
- Author:
Yeonkyung KIM
1
;
Ho Seok LEE
;
Jung Seok YU
;
Kangmo AHN
;
Chang Seok KI
;
Jihyun KIM
Author Information
- Publication Type:Case Report
- Keywords: CHARGE syndrome; CHD7; Mutation
- MeSH: Adenosine Triphosphate; CHARGE Syndrome*; Chromatin Assembly and Disassembly; Coloboma; Diagnosis; Ear; Genetic Counseling; Heart; Humans; Mutation, Missense; Nasopharynx; Parturition
- From:Korean Journal of Pediatrics 2014;57(1):46-49
- CountryRepublic of Korea
- Language:English
- Abstract: 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 DNA-binding 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 twenty-eight 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.
