PUBLICATION
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
- Authors
- Roosing, S., Rosti, R.O., Rosti, B., de Vrieze, E., Silhavy, J.L., van Wijk, E., Wakeling, E., Gleeson, J.G.
- ID
- ZDB-PUB-160602-19
- Date
- 2016
- Source
- Human genetics 135(8): 919-21 (Journal)
- Registered Authors
- de Vrieze, Erik, van Wijk, Erwin
- Keywords
- none
- MeSH Terms
-
- Abnormalities, Multiple/genetics*
- Abnormalities, Multiple/physiopathology
- Adult
- Animals
- Cerebellum/abnormalities*
- Cerebellum/physiopathology
- Child
- Child, Preschool
- Cilia/drug effects
- Cilia/pathology
- Ciliopathies/genetics*
- Ciliopathies/physiopathology
- Codon, Nonsense/genetics*
- DNA, Complementary/administration & dosage
- Disease Models, Animal
- Exome/genetics
- Eye Abnormalities/genetics*
- Eye Abnormalities/physiopathology
- Female
- Gene Knockdown Techniques
- Homozygote
- Humans
- Kidney Diseases, Cystic/genetics*
- Kidney Diseases, Cystic/physiopathology
- Male
- Microtubule-Associated Proteins/genetics*
- Pedigree
- Phenotype
- Retina/abnormalities*
- Retina/physiopathology
- Zebrafish/genetics
- PubMed
- 27245168 Full text @ Hum. Genet.
Citation
Roosing, S., Rosti, R.O., Rosti, B., de Vrieze, E., Silhavy, J.L., van Wijk, E., Wakeling, E., Gleeson, J.G. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. Human genetics. 135(8):919-21.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping