title: Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.
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.
authors.affiliation: Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340, Turkey.
authors.forename: O Giray
authors.initials: OG
authors.lastname: Bozkaya
authors.affiliation: Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Ataman
authors.affiliation: Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340, Turkey.
authors.forename: C
authors.initials: C
authors.lastname: Randa
authors.affiliation: Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340, Turkey.
authors.forename: D Onur
authors.initials: DO
authors.lastname: Cura
authors.affiliation: Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Gürsoy
authors.affiliation: Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340, Turkey.
authors.forename: O
authors.initials: O
authors.lastname: Aksel
authors.affiliation: Department of Pediatrics, Division of Genetics, Faculty of Medicine, Dokuz Eylul University, Inciralti, Izmir 35340, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Ulgenalp
keywords: CHARGE syndrome; CHD7 gene; Choanal atresia; Coloboma; Double tandem base substitution