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Multicenter Study
. 2023 Aug;54(4):225-238.
doi: 10.1055/a-2034-8528. Epub 2023 Feb 14.

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

Çağatay Günay  1 , Duygu Aykol  1 , Özlem Özsoy  1 , Ece Sönmezler  2 , Yaren Sena Hanci  1 , Bülent Kara  3 , Deniz Akkoyunlu Sünnetçi  3 , Naci Cine  4 , Adnan Deniz  3 , Tolgahan Özer  4 , Cemile Büşra Ölçülü  5 , Özlem Yilmaz  5 , Seda Kanmaz  5 , Sanem Yilmaz  5 , Hasan Tekgül  5 , Nihal Yildiz  6 , Elif Acar Arslan  6 , Ali Cansu  6 , Nihal Olgaç Dündar  7 , Fatma Kusgoz  8 , Elif Didinmez  8 , Pınar Gençpinar  7 , Tuğçe Aksu Uzunhan  9 , Biray Ertürk  9 , Alper Gezdirici  10 , Akif Ayaz  11 , Akgün Ölmez  12 , Müge Ayanoğlu  13 , Ayşe Tosun  13 , Yasemin Topçu  14 , Betül Kiliç  14 , Kürşad Aydin  14 , Ezgi Çağlar  15 , Özlem Ersoy Kosvali  15 , Çetin Okuyaz  15 , Şeyda Besen  16 , Leman Tekin Orgun  16 , İlknur Erol  16 , Deniz Yüksel  17 , Abdullah Sezer  18 , Ergin Atasoy  17 , Ülkühan Toprak  17 , Serdal Güngör  19 , Bilge Ozgor  19 , Meral Karadağ  19 , Cengiz Dilber  20 , Bahtiyar Şahinoğlu  21 , Emek Uyur Yalçin  22 , Nilüfer Eldes Hacifazlioglu  22 , Ahmet Yaramiş  23 , Pınar Edem  24 , Hande Gezici Tekin  24 , Ünsal Yilmaz  25 , Aycan Ünalp  25 , Sevim Turay  26 , Didem Biçer  27 , Gülen Gül Mert  27 , İpek Dokurel Çetin  28 , Serkan Kirik  29 , Gülten Öztürk  30 , Yasemin Karal  31 , Aslıhan Sanri  32 , Ayşe Aksoy  33 , Muzaffer Polat  34 , Nezir Özgün  35 , Didem Soydemir  1 , Gamze Sarikaya Uzan  1 , Döndü Ülker Üstebay  1 , Ayşen Gök  1 , Mehmet Can Yeşilmen  1 , Uluç Yiş  1 , Gökhan Karakülah  2 , Ahmet Bursali  2 , Yavuz Oktay  2 , Semra Hiz Kurul  1   2
Affiliations
Multicenter Study

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

Çağatay Günay et al. Neuropediatrics. 2023 Aug.

Abstract

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.

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.

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Conflict of interest statement

None declared.

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