Cecilie Bredrup, Sophie Saunier, Machteld M Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine M Leh, Marit Midtbø, Emilie Filhol, Christine Bole-Feysot, Patrick Nitschké, Christian Gilissen, Olav H Haugen, Jan-Stephan F Sanders, Irene Stolte-Dijkstra, Dorus A Mans, Eric J Steenbergen, Ben C J Hamel, Marie Matignon, Rolph Pfundt, Cécile Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A Veltman, Per M Knappskog, Nine V A M Knoers, Ronald Roepman, Heleen H Arts
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 displayed a nephronophthisis-like nephropathy...
November 11, 2011: American Journal of Human Genetics