Balkan Journal of Medical Genetics

THREE NOVEL MUTATIONS OF CHD7 GENE IN TWO TURKISH PATIENTS WITH CHARGE SYNDROME; A DOUBLE POINT MUTATION AND AN INSERTION
Giray Bozkaya O, Ataman E, Randa C, Onur Cura D, Gürsoy S, Aksel O, Ulgenalp A
*Corresponding Author: Associate Professor Ozlem Giray Bozkaya, 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. E-mail: ozlem.giray@deu.edu.tr
page: 65
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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.

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