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.
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Conflict of interest
The authors declare that they have no conflict of interest. This study has been approved by the appropriate institutional committee and has been performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.
S. Roosing and R. O. Rosti have contributed equally to this manuscript.
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Roosing, S., Rosti, R.O., Rosti, B. et al. Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. Hum Genet 135, 919–921 (2016). https://doi.org/10.1007/s00439-016-1689-z
- Primary Cilium
- Consanguineous Family
- Morpholino Oligonucleotide
- Joubert Syndrome
- Bilateral Ptosis