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Serpentine fibula‐polycystic kidney syndrome caused by truncating mutations in NOTCH2
Author(s) -
Isidor Bertrand,
Le Merrer Martine,
Exner G. Ulrich,
Pichon Olivier,
Thierry Gaelle,
GuiochonMantel Anne,
David Albert,
CormierDaire Valérie,
Le Caignec Cédric
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21563
Subject(s) - biology , sanger sequencing , exon , hum , mutation , genetics , polycystic kidney disease , pkd1 , kidney , gene , art , performance art , art history
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. Hum Mutat 32:1239–1242, 2011. ©2011 Wiley Periodicals, Inc.