Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
until further notice
SourceHuman Genetics, 135, 8, (2016), pp. 919-921
Article / Letter to editor
Display more detailsDisplay less details
SubjectRadboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience
Joubert Syndrome (JS) is an inherited ciliopathy associated with mutations in genes essential in primary cilium function. Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Knockdown of the gene in zebrafish resulted in a ciliopathy phenotype, rescued by co-injection of wildtype cDNA. Affected siblings present a mild and classical form of Joubert syndrome allowing for further delineation of the JS associated genotypic spectrum.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.