Identifying PTEN mutations in Turkish children with autism and macrocephaly

Why is the research needed?

Studies done in USA, UK, Central Europe and South Korea show a 1-17% prevalence of PTEN mutations in autism spectrum disorders (ASDs). The primary aim of this study is to understand the prevalence of the PTEN mutation in pediatric patients in Turkey with ASDs and macrocephaly (head size more than 97% on growth charts).

This has not been done before: in fact, there is no reported PTEN prevalence rate for any patient cohort in Turkey or Eastern Europe. This study cohort will also be the largest in the literature for PTEN prevalence studies in ASD populations. Additionally, most of the previous studies contain more adult patients than pediatric patients and there is therefore a need for more pediatric studies.

What does it consist of?

Patients diagnosed with ASD and macrocephaly between the ages of 3 to 18 will be  included in this study and PTEN mutation analysis performed via PTEN gene sequencing. A detailed patient family history and comprehensive physical exam will also be carried out. For patients with identified PTEN mutations, we also screen the relatives at risk and recommend cancer screening according to ther relevant guidelines.

What will it enable us to do next?

This research will identify new mutations, add new phenotypic information on the presentation of PHTS and, by following up patients, will help in the creation of new screening and management guidelines for paediatric patients with ASD and PTEN mutation.

About Dr Hande Kaymakçalan Çelebiler

Assistant Prof. Hande Kaymakçalan Çelebiler has been the head of the paediatric genetics department at Demiroğlu Bilim University, İstanbul, Turkey since 2014 ,and  is also a research associate at Yale University Prof. Günel Neurogenetics Department.

Prof. Çelebiler  received her MD degree from Marmara University Faculty of Medicine, İstanbul, Turkey and completed her paediatrics residency training at Cook County Hospital in Chicago, IL, USA where she received her American Academy of Pediatrics Board Certification.

After working as a general paediatrician for 4 years in Turkey, she returned to the USA to undertake a medical genetics fellowship at Yale University, New Haven, CT. After completing her fellowship, she worked as a post-doctoral researcher in autism genetics at Prof. Günel and Prof. State Neurogenetics Lab.