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Title: Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
Author(s): Roosing, S.; Rosti, R.O.; Rosti, B.; Vrieze, E. de ; Silhavy, J.L.; WIjk, E. van ; Wakeling, E.; Gleeson, J.G.
Publication year: 2016
Source: Human Genetics, vol. 135, iss. 8, (2016), pp. 919-921
ISSN: 0340-6717
DOI: https://doi.org/10.1007/s00439-016-1689-z
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/167861   http://hdl.handle.net/2066/167861

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Subject: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience
Organization: Human Genetics
Otorhinolaryngology
Journal title:
Human Genetics
Volume: vol. 135
Issue: iss. 8
Page start: p. 919
Page end: p. 921
Abstract:
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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