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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9
  • Publication Date: 2021
  • Doi Number: 10.1002/mgg3.1739
  • Title of Journal : MOLECULAR GENETICS & GENOMIC MEDICINE

Abstract

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.