Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations

Toraman B., Bilginer S. Ç., Tural Hesapcioglu S., Göker Z., Soykam H. O., Ergüner B., ...More

JOURNAL OF GENE MEDICINE, vol.23, no.4, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 4
  • Publication Date: 2021
  • Doi Number: 10.1002/jgm.3322
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Biotechnology Research Abstracts, EMBASE, MEDLINE
  • Keywords: apparently balanced chromosomal translocation, autism spectrum disorder, CNKSR2, DDX11, JMJD1C, next generation sequencing
  • Karadeniz Technical University Affiliated: Yes


Background Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases. In the present study, we aimed to idenitfy the causative genetic factors in patients with ASD who have an apparently balanced chromosomal translocation in their karyotypes.