<abstract xmlns="http://www.w3.org/1999/xhtml"><p> The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion.</p></abstract>

The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion.

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Mithatpasa 1606, Inciralti, Izmir 35340, Turkey. Tel: +90-230-412-6122. Fax: +90-230-412-6005

Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340, Turkey

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or...

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

Publicado en línea: 30 dic 2015

Páginas: 65 - 70

DOI: https://doi.org/10.1515/bjmg-2015-0007

Palabras clave
CHARGE syndrome, Coloboma, CHD7 gene, Choanal atresia, Double tandem base substitution

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

Publicado en línea: 30 dic 2015

Páginas: 65 - 70

DOI: https://doi.org/10.1515/bjmg-2015-0007

Palabras claveCHARGE syndrome, Coloboma, CHD7 gene, Choanal atresia, Double tandem base substitution

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Palabras clave
CHARGE syndrome, Coloboma, CHD7 gene, Choanal atresia, Double tandem base substitution