Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

  title={Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.},
  author={Cecilie Bredrup and Sophie Saunier and M. Oud and Torunn Fiskerstrand and Alexander Hoischen and Damien Brackman and Sabine Leh and Marit Midtb\o and Emilie Filhol and Christine B{\^o}le-Feysot and Patrick Linsel Nitschke and Christian Gilissen and Olav H. Haugen and J S F Sanders and Irene Stolte-Dijkstra and Dorus A Mans and Eric J. Steenbergen and Ben C J Hamel and M de Go{\"u}yon Matignon and Rolph Pfundt and C{\'e}cile Jeanpierre and Helge Boman and Eyvind R\odahl and Joris A. Veltman and Per Morten Knappskog and Nine V. V. A. M. Knoers and Ronald Roepman and Heleen H. Arts},
  journal={American journal of human genetics},
  volume={89 5},
A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigmentosa. Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome. In a Dutch family with the clinically overlapping Jeune syndrome, a homozygous missense mutation in the same gene was found. Both families… CONTINUE READING
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