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Pitt-Hopkins sendromu (PTHS) gelişimsel gecikme, mental retardasyon ve davranış değişiklikleri, belirgin yüz görünümü ve solunum anormallikleri ile karakterizedir. PTHS, 18q21.2'de bulunan TCF4 genindeki delesyonlardan veya varyantlardan kaynaklanır. Bu yazıda PTHS tanısı alan hastaların klinik ve genetik bulgularını tanımlamayı ve bulgularımızı literatür ile karşılaştırmayı amaçladık. Antalya Eğitim ve Araştırma Hastanesi pediatrik nöroloji kliniğinde 2017 ve 2020 arasında takip edilen, ağır mental retardasyon ve daha önce PTHS fenotipinin karakteristiği olarak tanımlanan özellikleri taşıyan hastalar, yeni nesil dizileme (NGS) tabanlı testler ile TCF4 mutasyonları açısından tarandı. 5 hastada PTHS ile ilişkili bir genetik mutasyon tespit edildi. Bu yazıda, PTHS'nin mutasyonel ve klinik spektrumuna ve ciddi zihinsel geriliğin ayırıcı tanısındaki önemli kısmına vurgulandı.
Pitt-Hopkins syndrome (PTHS) is characterized by developmental delays, mental retardation and behavioral changes, manifest face appearance and respiratory abnormalities. PTHS is derived from divisions or variants in the TCF4 gene located in 18q21.2. In this article, we aimed at identifying the clinical and genetic findings of patients diagnosed with PTHS and comparing our findings with literature. Patients with severe mental retardation, followed between 2017 and 2020 in the Pediatric Neurology Clinic of Antalya Education and Research Hospital, and previously identified as the characteristic of PTHS phenotype, were scaned with new generation-based trials (NGS) in terms of TCF4 mutations. A genetic mutation associated with PTHS was detected in 5 patients. This article emphasized the mutational and clinical spectrum of PTHS and the significant part of the distinctive diagnosis of severe mental tension.
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
Field : Sağlık Bilimleri
Journal Type : Uluslararası
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