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

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dc.contributor.authorKutluk, Gültekin
dc.contributor.authorKadem, Elif Naz
dc.contributor.authorRanda, Nadide Cemre
dc.contributor.authorÖz, Ayşe
dc.date.accessioned2022-09-30T11:35:12Z
dc.date.available2022-09-30T11:35:12Z
dc.date.issued2021
dc.departmentALKÜ
dc.description.abstractPitt-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
dc.identifier.doihttps://doi.org/10.30565/medalanya.891840
dc.identifier.endpage325en_US
dc.identifier.issue2en_US
dc.identifier.startpage317en_US
dc.identifier.urihttps://dergipark.org.tr/tr/pub/medalanya/issue/67530/891840
dc.identifier.urihttps://hdl.handle.net/20.500.12868/1738
dc.identifier.volume5en_US
dc.language.isoen
dc.relation.ispartofActa Medica Alanya
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Başka Kurum Yazarı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAngelman syndrome
dc.subjectBreath-holding episode
dc.subjectIntellectual disability
dc.subjectPitt-Hopkins syndrome
dc.subjectTCF4
dc.titleThe pitt-hopkins syndrome: Report of 5 patients and literature comparison
dc.typeArticle

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2021 - Cilt 5 - Sayı 3