Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

Kaymakcalan H., Kaya I., Binici N. C., Nikerel E., Ozbaran B., Aksoy M. G., ...More

MOLECULAR GENETICS & GENOMIC MEDICINE, vol.9, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9
  • Publication Date: 2021
  • Doi Number: 10.1002/mgg3.1739
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Directory of Open Access Journals
  • Keywords: autism spectrum disorder, macrocephaly, mutation, prevalence, PTEN, TUMOR-SUPPRESSOR, GERMLINE MUTATIONS, COWDEN SYNDROME, GENE, INDIVIDUALS, PHOSPHATASE, PROTEIN, DOMAIN
  • Istanbul University Affiliated: Yes


Background: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies.