Article detail · 2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
- Year
- 2024
- Type
- article
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- YÖKSİS YÖKSİS article record
- YÖKSİS venue Life Science Alliance
- Catalog match (ISSN) Life Science Alliance
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
OpenAlex · English
Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant functionality to enhance our understanding of the disease mechanism. This report identified two novel variants in CC2D1A in a cohort of four patients from two unrelated families. We used multiple model systems for functional analysis, including Xenopus , Drosophila , and patient-derived fibroblasts. Our experiments revealed that cc2d1a is expressed explicitly in a spectrum of ciliated tissues, including the left–right organizer, epidermis, pronephric duct, nephrostomes, and ventricular zone of the brain. In line with this expression pattern, loss of cc2d1a led to cardiac heterotaxy, cystic kidneys, and abnormal CSF circulation via defective ciliogenesis. Interestingly, when we analyzed brain development, mutant tadpoles showed abnormal CSF circulation only in the midbrain region, suggesting abnormal local CSF flow. Furthermore, our analysis of the patient-derived fibroblasts confirmed defective ciliogenesis, further supporting our observations. In summary, we revealed novel insight into the role of CC2D1A by establishing its new critical role in ciliogenesis and CSF circulation.
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Citations
OpenAlex cited_by_count. Not a WoS or Scopus citation count; those sources have no separate column here.
7 citations
OpenAlex cited_by_count (cache / database)
5 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- Computational Analysis of CC2D1A Missense Mutations: Insight into Protein Structure and Interaction Dynamics. 2025
- Computational Analysis of CC2D1A Missense Mutations: Insight into Protein Structure and Interaction Dynamics 2025
- Transcriptomic Analysis of GLUT10 Deficiency in Arterial Tortuosity Syndrome 2026
- Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification 2026
- Transcriptomic Analysis of GLUT10 Deficiency in Arterial Tortuosity Syndrome 2026