… KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and …
Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), …

… Joubert Syndrome refer to the phenotypes observed in human patients with mutations in
TALPID3/KIAA0586… loss of TALPID3/KIAA0586 function, there are two reported cases of Joubert …

… Here, we attempt to functionally characterise this variant as well as … ’ KIAA0586 variant
missed by the genetic testing in affected homozygotes, and indeed we had previously identified …

… for the mediation of centrosomal localisation and function of the KIAA0586 protein.6 14
One … 428delG variant with a more severe mutation in trans like the splice site mutation c.1413–1G…

… Table 4.1 Summary of genes causing Joubert syndrome, … Figure 4.3 Genome wide
homozygosity mapping in affected … Joubert syndrome in order to identify novel genetic causes; …

… The KIAA0586 protein plays a central role in cilia formation. Primary cilia function as cellular
… In conclusion, we identified compound heterozygous variants in KIAA0586 in a patient with …

… to a diagnostic reassignment as Joubert syndrome (JBTS). … laboratory investigations of renal
function, renal ultrasound, … carry pathogenic biallelic mutations in NPHP1 or KIAA0586, two …

… as part of the “Genome-wide genetic analysis of rare … functional analysis of mutant Pibf1
alleles demonstrated a role of Pibf1 in motile cilia of larval skin MCCs in Xenopus, and identified …

… Mutations in Talpid3, a basal body protein essential for the … been reported to be causative
for Joubert Syndrome (JS). Herein… identified gene with mutations in JS patients is KIAA0586 or …

… in KIAA0586 have been associated to Joubert syndrome (OMIM … (Gln605Gln) variant in
KIAA0586, identified by targeted … as likely impacting the KIAA0586 function and/or stability as it …