CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome

CONCLUSION: Our study introduced a novel variant in the CEP104 gene that results in an ID phenotype other than JBTS25. Comparison of her phenotype with that of eight previously published DD/ID patients harboring pathogenic variants in CEP104 gene revealed that more than half of them did not show JBTS related symptoms. Therefore, we suggest that the CEP104 gene might also be involved in a disorder other than JBTS 25, a point that deserves to be emerged in the OMIM database.PMID:35359234 | DOI:10.1007/s11033-022-07353-w

Source: Molecular Biology Reports - April 1, 2022 Category: Molecular Biology Authors: Reza Shervin Badv Mojdeh Mahdiannasser Maryam Rasoulinezhad Laleh Habibi Ali Rashidi-Nezhad Source Type: research