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WDR19

MIM.608151

Tuesday 8 November 2011

WDR19 encodes IFT144, a member of the intraflagellar transport (IFT) complex A that drives retrograde ciliary transport.

Pathology

- ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A Gene WDR19 (22019273)

  • A subset of ciliopathies, including Sensenbrenner syndrome, Jeune syndrome, and short-rib polydactyly syndromes (SRPS) are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigmentosa.
  • IFT144 has been found absent from the cilia of fibroblasts from one of the Sensenbrenner patients and that ciliary abundance and morphology is perturbed, demonstrating the ciliary pathogenesis.
  • Isolated nephronophthisis, Jeune syndrome, and Sensenbrenner syndromes are clinically overlapping disorders that can result from a similar molecular cause.

See also

- IFTs

References

- Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19. Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH. Am J Hum Genet. 2011 Oct 19. PMID: 22019273

- Lin, B., White, J. T., Utleg, A. G., Wang, S., Ferguson, C., True, L. D., Vessella, R., Hood, L., Nelson, P. S. Isolation and characterization of human and mouse WDR19, a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium. Genomics 82: 331-342, 2003. PubMed: 12906858