title: Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
abstract: Serpentine fibula polycystic kidney syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. The nosological classification of this disease has been debated as the condition shares features common to other skeletal dysplasias such as Melnick Needles syndrome (MNS; MIM309350) and Hajdu-Cheney Syndrome (HCS; MIM102500). Here, two previously reported cases of SFPKS are presented with emphasis on their phenotypic evolution. With the recent discovery that HCS is caused by mutations in NOTCH2, DNA from the both cases was examined and both were found to have truncating mutations in exon 34 of NOTCH2. The phenotypic evolution of SFPKS and this molecular analysis strongly suggest that SFPKS is part of the phenotypic spectrum of HCS and should no longer be classified as a distinct disease entity.
authors.affiliation: Department of Paediatrics, Dunedin School of Medicine, Dunedin, New Zealand.
authors.forename: Mary J
authors.initials: MJ
authors.lastname: Gray
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.forename: Debora Romeo
authors.initials: DR
authors.lastname: Bertola
authors.forename: Paula Ricci
authors.initials: PR
authors.lastname: Arantes
authors.forename: Helen
authors.initials: H
authors.lastname: Stewart
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.forename: Melita D
authors.initials: MD
authors.lastname: Irving
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Robertson
mesh_terms: D000293:Adolescent; D002648:Child; D005091:Exons; D005260:Female; D005820:Genetic Testing; D031845:Hajdu-Cheney Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D006225:Hand / Q000000981:diagnostic imaging; D006257:Head / Q000000981:diagnostic imaging; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009333:Neck / Q000000981:diagnostic imaging; D010641:Phenotype; D011859:Radiography; D035583:Rare Diseases / Q000235:genetics; D051883:Receptor, Notch2 / Q000235:genetics*; D014463:Ultrasonography
chemical_list: C497764:NOTCH2 protein, human; D051883:Receptor, Notch2