Investigation of the forkhead box protein P2 gene by the next-generation sequence analysis method in children diagnosed with specific learning disorder
Citation
Yazıcı, M., Yektaş, Ç., Eröz, R., Kaplan Karakaya, E. S., & Sarıgedik, E. (2023). Investigation of the forkhead box protein P2 gene by the next-generation sequence analysis method in children diagnosed with specific learning disorder. Psychiatric genetics, 33(1), 8–19. https://doi.org/10.1097/YPG.0000000000000326Abstract
Objective It was aimed to investigate the role of the
forkhead box protein P2 (FOXP2) gene in the cause of
specific learning disorder (SLD) with the next-generation
sequencing method.
Material and methods The study included 52 children
diagnosed with SLD and 46 children as control between
the ages of 6–12 years. Interview Schedule for Affective
Disorders and Schizophrenia for School-Age Children,
Present and Lifelong Version in Turkish, Diagnostic and
Statistical Manual of Mental Disorders, Fourth Edition
(DSM-IV)-Based Screening and Evaluation Scale for
Attention Deficit and Disruptive Behavior Disorders,
Specific Learning Disability Test Battery were applied to all
participants. The FOXP2 gene was screened by the nextgeneration sequencing (NGS) method in all participants.
Results A total of 17 variations were detected in the
FOXP2 gene in participants. The number and diversity of
variations were higher in the patient group. In the patient
group, c.1914+8A>T heterozygous variation and three
different types of heterozygous variation (13insT, 13delT
and 4dup) in the c.1770 region were detected. It was
found that the detected variations showed significant
relationships with the reading phenotypes determined by
the test battery.
Conclusion It was found that FOXP2 variations were
seen more frequently in the patient group. Some of
the detected variations might be related to the clinical
phenotype of SLD and variations found in previous
studies from different countries were not seen in Turkish
population. Our study is the first to evaluate the role of
FOXP2 gene variations in children with SLD in Turkish
population, and novel variations in the related gene were
detected.