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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.
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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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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