Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

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Publication year
2016Source
Human Genetics, 135, 8, (2016), pp. 919-21ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Otorhinolaryngology
Journal title
Human Genetics
Volume
vol. 135
Issue
iss. 8
Page start
p. 919
Page end
p. 21
Subject
Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical NeuroscienceAbstract
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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- Academic publications [227881]
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- Faculty of Medical Sciences [86219]
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