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., ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1002/mgg3.1739
  • Dergi Adı: MOLECULAR GENETICS & GENOMIC MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Directory of Open Access Journals
  • Anahtar Kelimeler: autism spectrum disorder, macrocephaly, mutation, prevalence, PTEN, TUMOR-SUPPRESSOR, GERMLINE MUTATIONS, COWDEN SYNDROME, GENE, INDIVIDUALS, PHOSPHATASE, PROTEIN, DOMAIN
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.