Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome / 소아과
Korean Journal of Pediatrics
; : 46-49, 2014.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-7814
Responsible library:
WPRO
ABSTRACT
CHARGE syndrome has been estimated to occur in 110,000 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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Adenosine Triphosphate
/
Coloboma
/
Nasopharynx
/
Mutation, Missense
/
Parturition
/
Chromatin Assembly and Disassembly
/
Diagnosis
/
Ear
/
CHARGE Syndrome
/
Genetic Counseling
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2014
Document type:
Article