Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study-Reference-Cited by-同舟云学术

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Published:2023-02-14 Issue:04 Volume:54 Page:225-238
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Günay Çağatay¹^ORCID,Aykol Duygu¹^ORCID,Özsoy Özlem¹^ORCID,Sönmezler Ece²^ORCID,Hanci Yaren Sena¹^ORCID,Kara Bülent³^ORCID,Akkoyunlu Sünnetçi Deniz³^ORCID,Cine Naci⁴^ORCID,Deniz Adnan³^ORCID,Özer Tolgahan⁴^ORCID,Ölçülü Cemile Büşra⁵^ORCID,Yilmaz Özlem⁵^ORCID,Kanmaz Seda⁵^ORCID,Yilmaz Sanem⁵^ORCID,Tekgül Hasan⁵^ORCID,Yildiz Nihal⁶^ORCID,Acar Arslan Elif⁶^ORCID,Cansu Ali⁶^ORCID,Olgaç Dündar Nihal⁷^ORCID,Kusgoz Fatma⁸^ORCID,Didinmez Elif⁸^ORCID,Gençpinar Pınar⁷^ORCID,Aksu Uzunhan Tuğçe⁹^ORCID,Ertürk Biray⁹^ORCID,Gezdirici Alper¹⁰^ORCID,Ayaz Akif¹¹^ORCID,Ölmez Akgün¹²^ORCID,Ayanoğlu Müge¹³^ORCID,Tosun Ayşe¹³^ORCID,Topçu Yasemin¹⁴^ORCID,Kiliç Betül¹⁴^ORCID,Aydin Kürşad¹⁴^ORCID,Çağlar Ezgi¹⁵^ORCID,Ersoy Kosvali Özlem¹⁵,Okuyaz Çetin¹⁵^ORCID,Besen Şeyda¹⁶^ORCID,Tekin Orgun Leman¹⁶^ORCID,Erol İlknur¹⁶^ORCID,Yüksel Deniz¹⁷^ORCID,Sezer Abdullah¹⁸^ORCID,Atasoy Ergin¹⁷^ORCID,Toprak Ülkühan¹⁷^ORCID,Güngör Serdal¹⁹^ORCID,Ozgor Bilge¹⁹^ORCID,Karadağ Meral¹⁹^ORCID,Dilber Cengiz²⁰^ORCID,Şahinoğlu Bahtiyar²¹^ORCID,Uyur Yalçin Emek²²^ORCID,Eldes Hacifazlioglu Nilüfer²²^ORCID,Yaramiş Ahmet²³^ORCID,Edem Pınar²⁴^ORCID,Gezici Tekin Hande²⁴^ORCID,Yilmaz Ünsal²⁵^ORCID,Ünalp Aycan²⁵^ORCID,Turay Sevim²⁶^ORCID,Biçer Didem²⁷^ORCID,Gül Mert Gülen²⁷^ORCID,Dokurel Çetin İpek²⁸^ORCID,Kirik Serkan²⁹^ORCID,Öztürk Gülten³⁰^ORCID,Karal Yasemin³¹^ORCID,Sanri Aslıhan³²^ORCID,Aksoy Ayşe³³^ORCID,Polat Muzaffer³⁴^ORCID,Özgün Nezir³⁵^ORCID,Soydemir Didem¹^ORCID,Sarikaya Uzan Gamze¹^ORCID,Ülker Üstebay Döndü¹^ORCID,Gök Ayşen¹^ORCID,Yeşilmen Mehmet Can¹^ORCID,Yiş Uluç¹^ORCID,Karakülah Gökhan²^ORCID,Bursali Ahmet²^ORCID,Oktay Yavuz²^ORCID,Hiz Kurul Semra¹²^ORCID

Affiliation:

1. Department of Pediatric Neurology, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey

2. Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey

3. Department of Pediatric Neurology, Kocaeli University School of Medicine, Kocaeli, Turkey

4. Department of Medical Genetics, Kocaeli University School of Medicine, Kocaeli, Turkey

5. Department of Child Neurology, Ege University Faculty of Medicine, Izmir, Turkey

6. Department of Pediatric Neurology, Karadeniz Technical University, Faculty of Medicine, Farabi Hospital, Trabzon, Turkey

7. Department of Pediatric Neurology, İzmir Katip Çelebi University, Izmir, Turkey

8. Department of Pediatric Neurology, Tepecik Research and Training Hospital, Izmir, Turkey

9. Department of Pediatric Neurology, Prof Dr Cemil Tascioglu City Hospital, Istanbul, Turkey

10. Department of Medical Genetics, Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey

11. Department of Medical Genetics, Istanbul Medipol University School of Medicine, Istanbul, Turkey

12. Denizli Pediatric Neurology Clinic, Denizli, Turkey

13. Department of Child Neurology, Adnan Menderes University School of Medicine, Aydın, Turkey

14. Department of Pediatric Neurology, Istanbul Medipol University Faculty of Medicine, Istanbul, Turkey

15. Departments of Pediatric Neurology, Mersin University Faculty of Medicine, Mersin, Turkey

16. Division of Pediatric Neurology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey

17. Department of Pediatric Neurology, University of Health Sciences Faculty of Medicine, Dr Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey

18. Department of Genetics, University of Health Sciences Faculty of Medicine, Dr Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey

19. Department of Paediatric Neurology, Inonu University Faculty of Medicine, Turgut Ozal Research Center, Malatya, Turkey

20. Department of Pediatric Neurology, Kahramanmaras Sutcu Imam University Faculty of Medicine, Kahramanmaraş, Turkey

21. Deparment of Genetics, Dr Ersin Arslan Traning and Research Hospital, Gaziantep, Turkey

22. Departments of Pediatrics and Pediatric Neurology, University of Health Sciences, Zeynep Kamil Maternity and Children's Diseases Hospital, Istanbul, Turkey

23. Diyarbakır Pediatric Neurology Clinic, Diyarbakır, Turkey

24. Department of Pediatric Neurology, Bakırcay University, Cigli District Training Hospital, Izmir, Turkey

25. Department of Pediatric Neurology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey

26. Department of Pediatric Neurology, Duzce University Faculty of Medicine, Düzce, Turkey

27. Department of Pediatric Neurology, Çukurova University Faculty of Medicine, Adana, Turkey

28. Department of Pediatric Neurology, Balıkesir Atatürk Training and Research Hospital, Balıkesir, Turkey

29. Fırat University School of Medicine, Pediatric Neurology, Elazığ, Turkey

30. Department of Pediatric Neurology, Marmara University School of Medicine, Istanbul, Turkey

31. Department of Pediatric Neurology, Trakya University, Faculty of Medicine, Edirne, Turkey

32. Department of Pediatric Genetics, University of Health Sciences, Samsun Training and Research Hospital, Samsun, Turkey

33. Department of Pediatric Neurology, Ondokuz Mayıs University, Samsun, Turkey

34. Department of Pediatric Neurology, Celal Bayar University School of Medicine, Manisa, Turkey

35. Department of Pediatric Neurology, Mardin Artuklu University, Faculty of Health Sciences, Mardin, Turkey

Abstract

AbstractBackground 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.Methods 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 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 ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and 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.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/a-2034-8528.pdf

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