New insights into CC2D2A-related Joubert syndrome

Conclusion This study contradicts previous literature stating an association between CC2D2A-related JS and ventriculomegaly. Our study implies that CC2D2A-related JS is linked to positive neurodevelopmental outcome and low rate of other organ defects except for homozygous pathogenic variant p.Arg950*. This information will help modulate patient follow-up and provide families with accurate genetic counselling.

http://jmg.bmj.com/cgi/content/short/60/6/578?rss=1

Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Harion, M., Qebibo, L., Riquet, A., Rougeot, C., Afenjar, A., Garel, C., Louha, M., Lacaze, E., Audic-Gerard, F., Barth, M., Berquin, P., Bonneau, D., Bourdain, F., Busa, T., Colin, E., Cuisset, J.-M., Des Portes, V., Dorison, N., Francannet, C., Heron, B Tags: Neurogenetics Source Type: research