Publications by authors named "T O Kalaycı"
SOFT syndrome (SOFTS) is an autosomal recessive disorder caused by biallelic POC1A variants, characterized by short stature, distinctive facial features, onychodysplasia, and hypotrichosis. To date, 21 pathogenic POC1A variants have been reported in 26 families. This study aims to broaden the phenotypic and genotypic spectrum of SOFTS with emphasis on the long-term effects of growth hormone (GH) therapy.
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- The text discusses a specific gene, bhlhe22, which plays a crucial role in retinal and brain development by encoding a transcription factor involved in neural differentiation.
- Researchers identified eleven individuals from nine families with variants in this gene linked to a neurodevelopmental disorder characterized by speech limitations, severe motor impairments, intellectual disabilities, and other neurological symptoms, including agenesis of the corpus callosum.
- Genetic analysis revealed that some individuals had harmful missense variants in a critical region of the gene, while others had a recurring frameshift mutation, suggesting that these genetic changes lead to severe cognitive and motor deficits associated with this newly recognized disorder.
Karyomegalic interstitial nephritis (KIN) is a rare entity associated with biallelic FAN1 (FANCD2/FANCI-Associated Nuclease 1) gene variants. In FAN1-related KIN, abnormal liver function tests and respiratory involvement are common, in addition to chronic kidney disease. Karyomegalic changes have also been reported in many other organs in patients with FAN1-related KIN in various studies.
View Article and Find Full Text PDFIntroduction: Vici syndrome is an ultra-rare, congenital disorder of autophagy characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Patients usually present in the neonatal period or infancy with profound hypotonia, based on information available from the nearly 100 cases reported to date.
Case Presentation: We present 3 new cases of Vici syndrome confirmed by genetic analysis of gene.