A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4
Our analyses revealed that the variant is pathogenic, disrupting normal <i>ISCA2</i> splicing and presumably leading to a truncated protein that disturbs metabolic pathways in patient-derived cells.
Authors
- Saif Alshahrani
- Mohammad A. Al–Muhaizea (ORCID: https://orcid.org/0000-0002-1050-3117)
- Rawan Almass
- Hanan AlQudairy
- Khaled O. Alahmadi
- Dilek Çolak (ORCID: https://orcid.org/0000-0001-6485-8768)
- Albandary AlBakheet
- Aljouhra AlHargan
- Namik Kaya (ORCID: https://orcid.org/0000-0001-8912-7507)
- Zuhair Nasser Al-Hassnan (ORCID: https://orcid.org/0000-0002-7173-2044)
- Robert William Taylor (ORCID: https://orcid.org/0000-0002-7768-8873)
- Mazhor Aldosary
Institutions
- National Health Service (GB)
- Alfaisal University (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Wellcome Centre for Mitochondrial Research (GB)
- Newcastle University (GB)
Publication Details
- Journal
- Frontiers in Psychiatry
- Published
- 2024-10-18
- DOI
- https://doi.org/10.3389/fpsyt.2024.1428175
- Citations
- 2
- Primary Topic
- Metalloenzymes and iron-sulfur proteins
- Type
- article
- Field-Weighted Citation Impact
- 0.20
Funders
- King Salman Center for Disability Research