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

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

Abstract 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 skele...

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Bibliographic Details
Main Authors: Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer
Format: Article
Language:English
Published: Wiley 2021-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
antisense oligonucleotide
CC2D2A
CEP120
ciliopathy
exon skipping
Joubert syndrome
Online Access:https://doi.org/10.1002/mgg3.1603

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