Hum Mutat. 2011 Nov;32(11):1239-42. doi: 10.1002/humu.21563. Epub 2011 Sep 12.

Isidor B, Le Merrer M, Exner GU, Pichon O, Thierry G, Guiochon-Mantel A, David A, Cormier-Daire V, Le Caignec C.

Abstract

Serpentine fibula-polycystic kidney syndrome (SFPKS) is a rare disorder characterized by the association of craniofacial anomalies, radiological findings (wormian bones, elongated and bowed fibulae), polycystic kidneys, and normal intelligence. SFPKS shares many similarities with Hajdu-Cheney syndrome (HCS). We and others recently showed that truncating mutations in the last exon of NOTCH2 cause HCS. Here, we identify by Sanger sequencing two different heterozygous truncating mutations in the last exon of NOTCH2 in two unrelated patients with SFPKS. In one family, we show that the mutation occurred de novo. These findings demonstrate that SFPKS and HCS are both conditions caused by NOTCH2 mutations.