Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel <scp><i>PRPF8</i></scp> Variant
Our findings indicate that the p.R86M variant may disrupt normal protein function by changing its structure and probably its interaction, potentially leading to the observed neurodevelopmental phenotypes. This study highlights the first link between the PRPF8 variant and NDDs, suggesting a distinct role for specific PRPF8 variants in the etiology of NDDs. These results warrant further investigation into the mechanisms by which PRPF8 variants contribute to NDDs, emphasizing the need for comprehensive genetic screening in families with unexplained neurodevelopmental conditions.
Authors
- Somayyeh Hashemian
- Reza Jafarzadeh Esfehani (ORCID: https://orcid.org/0000-0002-9177-994X)
- Mohammad Reza Seyedtaghia (ORCID: https://orcid.org/0000-0002-6151-7826)
- Arash Salmaninejad (ORCID: https://orcid.org/0000-0001-6141-3915)
- Saman Farahmand (ORCID: https://orcid.org/0000-0001-8999-2322)
- M. E. Suzanne Lewis (ORCID: https://orcid.org/0000-0002-6300-5381)
- Farzaneh Mirzaei
- Mohammad Reza Mirinezhad
- Mehran Beiraghi Toosi
Institutions
- University of British Columbia (CA)
- Mashhad University of Medical Sciences (IR)
- Islamic Azad University, Mashhad (IR)
- Academic Center for Education, Culture and Research (IR)
- Hormozgan University of Medical Sciences (IR)
- BC Children's Hospital (CA)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/mgg3.70084
- Primary Topic
- Peptidase Inhibition and Analysis
- Type
- article
- Field-Weighted Citation Impact
- 0.00