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Article

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

Human genetics - 1 Aug 2016

Roosing Susanne, Rosti Rasim O, Rosti Basak, de Vrieze Erik, Silhavy Jennifer L, van Wijk Erwin, Wakeling Emma, Gleeson Joseph G

Abstract excerpt

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...

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PMID: 27245168
DOI: 10.1007/s00439-016-1689-z
PMCID: PMC4955754

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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