Korean J Pediatr.  2014 Jan;57(1):46-49. 10.3345/kjp.2014.57.1.46.

Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome

• Kim Y
• Lee HS
• Yu JS
• Ahn K
• Ki CS
• Kim J

• KMID: 1875960
• DOI: http://doi.org/10.3345/kjp.2014.57.1.46

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.

Keyword

CHARGE syndrome; CHD7; Mutation

MeSH Terms

Adenosine Triphosphate
CHARGE Syndrome*
Chromatin Assembly and Disassembly
Coloboma
Diagnosis
Ear
Genetic Counseling
Heart
Humans
Mutation, Missense
Nasopharynx
Parturition
Adenosine Triphosphate