Karakisi, Sedat Ozan Dizileme Yöntemi ile Subakut Sklerozan Panensefalit (SSPE) Hastalığı İlişkili Gen Mutasyonlarının Tespiti

Abstract

Subacute sclerosing panencephalitis (SSPE) is a chronic progressive neurodegenerative disease of the central nervous system effecting children and young adults. First symptoms are mental deterioration, myoclonia and behavioral changes progresing to gait disturbances. Later on patients become beddridden and comatose. The disease eventually cause death of the patient in several years. In this study, new generation sequencing designed for primary immunodeficiencies was used to reveal the immunological mechanisms in the development of SSPE. Fifty three patients who were diagnosed with SSPE in Section of Pediatric Neurology, Hacettepe University, İhsan Doğramacı Children’s Hospital were included in this study. Diagnosis was based on clinical findings, CSF measles index and EEG findings. Illumina 5 system was used for sequencing. Forty two patient were male and 11 patient were female. The mean age of the patients was 16±3,2 years. The mean age for measles was 24 ± 18 months. Interpretation of the results revealed that polimorphisms that are likely disease causing were detected in 15 patients. Five patients had MCM4 variant, 3 patients had TNFRSF13B variant, 2 patient had IRF3 variant and SERPING1, TTC7A, DOCK8, LRBA, C1q, TYK2, LRRC8A vatiants were detected only at one patient. The variants found in the study will assist on new studies in determining the immune mechanisms that may be related to measles virus pathogenesis.