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| Mendeliome v1.3130 | CETN3 | Zornitza Stark Marked gene: CETN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3130 | CETN3 | Zornitza Stark Gene: cetn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3130 | CETN3 | Zornitza Stark Classified gene: CETN3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3130 | CETN3 | Zornitza Stark Gene: cetn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3119 | CETN3 |
Rylee Peters gene: CETN3 was added gene: CETN3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CETN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CETN3 were set to 40926052 Phenotypes for gene: CETN3 were set to microcephaly, MONDO:0001149, CETN3-related Review for gene: CETN3 was set to RED Added comment: PMID: 40926052: 1x cHet individual with primary microcephaly (-2 SD at birth and -3 SD at 5yo), motor delay, enlarged bilateral ventricles on MRI, horizontal nystagmus. Two frameshift variants identified, p.Lys15Glufs*9 (5’ NMD-escape; 432 hets, 2 homs in gnomAD v4) and p.Asp40Lysfs*5 (NMD-predicted; filtered out in v4). CETN3-KO hCOs (human cerebral organoids) were significantly smaller than control hCOs. The identified patient variants were introduced into WT iPSCs. Western blot analysis demonstrated a complete loss of CETN3 protein in both CETN3-KO cells and CETN3-mutant iPSCs. These were then used to generate hCOs, both of which exhibited reduced size compared to their respective controls. Forebrain-specific Cetn3-ablated mice were also generated. At embryonic day 13.5 a significant but subtle reduction in forebrain size was detected in Cetn3-KO mice compared to control, while no difference was observed at P0. Sources: Literature |
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