Publication: Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
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Blackburn, P. R., Ebstein, F., Hsieh, T.-C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gérard, B., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A., … et al. (2023). Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder (No. 23290941; MedRxiv). https://doi.org/10.1101/2023.06.13.23290941
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Purpose De novovariants inCUL3(Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare variants inCUL3,describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism.MethodsGenetic data and detailed clinical records were collected via multi-center collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein
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Blackburn, P. R., Ebstein, F., Hsieh, T.-C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gérard, B., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A., … et al. (2023). Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder (No. 23290941; MedRxiv). https://doi.org/10.1101/2023.06.13.23290941
