The pitt-hopkins syndrome: Report of 5 patients and literature comparison

Abstract

Pitt-Hopkins syndrome (PTHS) is characterized by developmental delay, intellectual disability and behavioral changes, distinctive facial gestalt, and breathing abnormalities. PTHS is caused by deletions or pathological variants in the TCF4 gene located at 18q21.2. In this report, we aimed to describe the clinical and genetic findings of patients diagnosed with PTHS and compare our patients with the literature. Patients who were followed up with severe intellectual disability and a variable association of features previously described as characteristic of the PTHS phenotype in the pediatric neurology clinic of Antalya Training and Research Hospital were screened for TCF4 mutations using next-generation sequencing (NGS)-based tests, between 2017 and 2020. A genetic mutation associated with PTHS was detected in five patients. This paper emphasis on mutational and clinical spectrum of PTHS and its significant part in the differential diagnosis of severe mental retardation