Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome / 소아과
Korean Journal of Pediatrics
; : 46-49, 2014.
Article
em En
| WPRIM
| ID: wpr-7814
Biblioteca responsável:
WPRO
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.
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Texto completo:
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Índice:
WPRIM
Assunto principal:
Trifosfato de Adenosina
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Coloboma
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Nasofaringe
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Mutação de Sentido Incorreto
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Parto
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Montagem e Desmontagem da Cromatina
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Diagnóstico
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Orelha
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Síndrome CHARGE
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Aconselhamento Genético
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2014
Tipo de documento:
Article