Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Method: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Results: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was intellectual disability. The most frequently overrepresented GO biological process, cellular component and molecular function terms were regulation of membrane potential, ion channel complex, voltage-gated ion channel activity/voltage-gated channel activity, respectively. Conclusion: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.

Giriş ve Amaç: Nörofibromatozis tip 1 başlıca cafe au lait lekeleri, Lisch nodülleri ve nörofibromlarla karakterize otozomal dominant kalıtımlı bir rasopatidir. Bu çalışmada amacımız, NF1 ön tanısıyla başvuran hastaların genotipik verilerini sunmaktır. Gereç ve Yöntemler: 2018 Haziran–2022 Haziran tarihleri arasında yaş ortalaması 8,1 yaş (2 ay-28 yaş aralığında) olan 22 olgu NF1 ön tanısıyla değerlendirildi. Hastalara NF1 geni dizi analizi yapıldı. Bulgular: NF1 geni dizi analizi yöntemiyle tanı oranı %90,9 idi. 16 farklı NF1 geni varyantından 13 (%81,25) 'ü patojenik/muhtemel patojenik iken, 3 (%18,75)'ü ise klinik önemi bilinmeyen varyantlardı. Sonuç: NF1 ön tanısıyla başvuran hastalardaki genetik tanı oranı ve klinik bulguları literatür verileri eşliğinde tartışıldı. 4 yeni NF1 geni varyantı saptandı.

No abstract

Cantrell pentalogy is a rare disorder encountered in fetal an intrauterine life. Pentalogy of Cantrell consist more than one pathological components these are sternal, pericardial, diafragmatic, anterior abdominal wall defects.Pentalogy of Cantrell firstly described by Cantrelll and colleageus at 1958. Prevalance of Cantrell is 1/65.000- 1/200.000. In our case we want to evaluate clinical and post clinical pathways insight of literature.