Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome / 소아과
Korean Journal of Pediatrics
;
: 46-49, 2014.
Article
Dans Anglais
| WPRIM
| ID: wpr-7814
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Adénosine triphosphate
/
Colobome
/
Partie nasale du pharynx
/
Mutation faux-sens
/
Parturition
/
Assemblage et désassemblage de la chromatine
/
Diagnostic
/
Oreille
/
Syndrome CHARGE
/
Conseil génétique
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Korean Journal of Pediatrics
Année:
2014
Type:
Article
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