Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.

Bozkaya G. O., Ataman E., Randa C., Cura O. D., Gursoy S., Aksel O., ...More

Balkan journal of medical genetics : BJMG, vol.18, no.1, pp.65-70, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 1
  • Publication Date: 2015
  • Doi Number: 10.1515/bjmg-2015-0007
  • Journal Name: Balkan journal of medical genetics : BJMG
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.65-70
  • Keywords: CHARGE syndrome, Coloboma, CHD7 gene, Choanal atresia, Double tandem base substitution, ASSOCIATION, PROTEIN, UPDATE
  • Dokuz Eylül University Affiliated: Yes


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.