Molecular treatment options for patients carrying <i>KIAA0586/TALPID3</i> variants.

ABSTRACT: Variants in KIAA0586/TALPID3 are associated with the ciliopathy Joubert syndrome (JS), which is a genetically heterogeneous disorder. Mutations in more than 40 different genes were associated with JS, genes that are relevant to ciliary assembly, maintenance, or cellular signaling pathways during the development. Genetic variability suggests that gene- and/or mutation-independent treatment strategies could be beneficial to patients. Currently, targeted therapeutic options are not available. In this study, we present molecular treatment options for pathogenic KIAA0586/TALPID3 sequence alterations. We compared therapeutic efficacy and side effects using patient-derived fibroblasts from two siblings affected by JS. The patients harbored two compound heterozygous sequence alterati

SUBMITTER: Taudien JE 

PROVIDER: S-EPMC12423346 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature