CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families

BACKGROUND: . METHODS: mutations. RNA and protein expression studies were carried out on these cells using qPCR and Western blot, respectively. RESULTS: , another ciliary gene. qPCR and Western blot analyses showed significantly lower levels of CEP104 transcripts and protein in patients compared to heterozygous or normal family members. CONCLUSION: We emphasize on the clinical variability and pleiotropic phenotypes due to variants of these genes. In conclusion, our findings support the pivotal role of these genes resulting in cognitive and neurodevelopmental features.