title: Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.
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.
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: G Ulrich
authors.initials: GU
authors.lastname: Exner
authors.forename: Olivier
authors.initials: O
authors.lastname: Pichon
authors.forename: Gaelle
authors.initials: G
authors.lastname: Thierry
authors.forename: Anne
authors.initials: A
authors.lastname: Guiochon-Mantel
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
mesh_terms: D000328:Adult; D005260:Female; D031845:Hajdu-Cheney Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D051883:Receptor, Notch2 / Q000235:genetics*
chemical_list: C497764:NOTCH2 protein, human; D051883:Receptor, Notch2