CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia
This study reports a novel pathogenic variant in CCDC82 associated with a severe neurodevelopmental disorder. These findings expand the known phenotypic spectrum associated with biallelic CCDC82 variants, reinforcing its role in early-onset hypotonia and infantile spasms. Further investigations are necessary to confirm its functional role and establish CCDC82 as a novel disease-associated gene.
Authors
- Mohammad Hossein Shushizadeh
- Arghavan Rakhshani Nejad
- Soraya Mehrabi (ORCID: https://orcid.org/0000-0001-8555-726X)
- Seyedeh Faezeh Hassani
- Abdolazim Sarli (ORCID: https://orcid.org/0000-0002-5445-8266)
- Nahid Rezaie
- Pegah Kavousinia
- Zahra Safarian
- Sajad Alavimanesh
- Latifeh Onagh
Institutions
- Ahvaz Jundishapur University of Medical Sciences (IR)
- Pasteur Institute of Iran (IR)
- Mashhad University of Medical Sciences (IR)
- Shahrekord University of Medical Sciences (IR)
- Golestan University (IR)
- Islamic Azad University Medical Branch of Tehran (IR)
- Tabaran Institute of Higher Education (IR)
- Golestan University of Medical Sciences (IR)
- Shahid Beheshti University of Medical Sciences (IR)
- Birjand University of Medical Sciences (IR)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-08-20
- DOI
- https://doi.org/10.1186/s12920-025-02201-9
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kerman University of Medical Sciences