ZFIN ID: ZDB-PUB-160602-19
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
Roosing, S., Rosti, R.O., Rosti, B., de Vrieze, E., Silhavy, J.L., van Wijk, E., Wakeling, E., Gleeson, J.G.
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.
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.