Article
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Molecular genetics & genomic medicine - 1 Dec 2021
Barroso-Gil Miguel, Olinger Eric, Ramsbottom Simon A, Molinari Elisa, Miles Colin G, Sayer John A
Abstract excerpt
BACKGROUND: Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert syndrome but are also associated with skeletal ciliopathies and Meckel syndrome, respectively. The molecular basis for this phenotypical variability is not understood...
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