1. CCDC174 mutation underlies a syndrome of
hypotonia and psychomotor developmental
delay with abducens nerve palsy
Presented by: Michael Volodarsky
Supervisor: Prof. Ohad S. Birk
The Morris Kahn Laboratory of Human Genetics at the NIBN.
The Shraga Segal Department of Microbiology, Immunology and Genetics,
Faculty of Health Sciences, Ben-Gurion University of the Negev, Israel.
2. • Small VSD (Ventricular Septal Defect)
• Psycho-motor delay
• Thin corpus callosum
• Pectus excavatum (sunken chest)
• Myopathic changes represented by
replacement of muscle fibers by fibrous tissue
and marked variation in fiber size
Family 1
Ethiopian Jews
14. CCDC174
CCDC174 and EIF4a3 are nuclear and co-localized in neuroblastoma cells
EIF4A3 CCDC174 CCDC174EIF4A3 Merge
15. Summary
• CCDC174 is a ubiquitously expressed nuclear protein
• CCDC174 interacts with EIF4A3 and is part of the exon junction complex
• CCDC174 is crucial for early neuronal development in Xenopus
• Interracial p.*468Trpext*6 in CCDC174 leads to depletion of RYR1 protein in
muscle and massive cell death in neuroblastoma cell line
16. Thanks to all lab members:
• Rotem Kadir
• Yonatan Perez
• Miora Feinstein
• Regina Ohayon
• Sara Sivan
• Head of laboratory: Prof. Ohad Birk
• Hava Lichtig
• Dale Frank
