xenopus [Neurosurgery Wiki]

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[[Intellectual]] and [[development]]al [[disability]] [[result]] from [[abnormal]] [[nervous system]] development. Over a 1,000[[ gene]]s have been associated with intellectual and [[developmental disabiliy]], driving continued [[effort]]s toward dissecting variant [[functionality]] to enhance our understanding of the [[disease]] [[mechanism]]. 

A [[report]] identified two novel variants in CC2D1A in a cohort of four patients from two unrelated families. 
They used multiple [[model]] [[system]]s for functional [[analysis]], including [[Xenopus]], [[Drosophila]], and patient-derived [[fibroblast]]s.
The [[experiment]]s revealed that cc2d1a is expressed explicitly in a spectrum of ciliated tissues, including the left-right organizer, [[epidermis]], [[pronephric duct]], [[nephrostome]]s, and [[ventricular]] zone of the [[brain]]. In line with this [[expression]] [[patter]]n, loss of cc2d1a led to cardiac heterotaxy, [[cystic kidney]]s, 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, the analysis of the patient-derived fibroblasts confirmed defective ciliogenesis, further supporting the observations
((Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, Jeffries L, Ji W, Lakhani SA, Kose CC, Silan F, Oner SS, Kaplan OI; MarmaRare Group; Ergoren MC, Mishra-Gorur K, Gunel M, Sag SO, Temel SG, Deniz E. CC2D1A causes [[ciliopathy]], [[intellectual disability]], [[heterotaxy]], renal [[dysplasia]], and abnormal CSF flow. Life Sci Alliance. 2024 Aug 21;7(10):e202402708. doi: 10.26508/lsa.202402708. PMID: 39168639.)).