title: Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
abstract: Serpentine fibula polycystic kidney syndrome (SFPKS; OMIM600330) is a rare skeletal dysplasia with a characteristic phenotype that includes polycystic kidneys, S-shaped fibulas, and abnormal craniofacial features. SFPKS shares features with Alagille (AGS; OMIM) and Hajdu-Cheney (HCS; OMIM10250) syndromes. All three syndromes result from mutations in the gene that encodes NOTCH2, one of the receptors involved in Notch signaling. Notch signaling is a major developmental signaling pathway, as well as a key regulator of numerous cellular processes. In this report, we present the prenatal ultrasound and postnatal findings in a 23-week fetus with severe manifestations of SPKS and heterozygosity for a de novo mutation in exon 34 of NOTCH2. These findings expand the phenotypic spectrum of NOTCH2 mutations and demonstrate the findings in the prenatal period.
authors.affiliation: UCLA School of Dentistry, Los Angeles, California.
authors.forename: Brett M
authors.initials: BM
authors.lastname: Martin
authors.forename: Margarita H
authors.initials: MH
authors.lastname: Ivanova
authors.forename: Anna
authors.initials: A
authors.lastname: Sarukhanov
authors.forename: Ashley
authors.initials: A
authors.lastname: Kim
authors.forename: Patricia
authors.initials: P
authors.lastname: Power
authors.forename: Denise
authors.initials: D
authors.lastname: Pugash
authors.forename: Oana-Eugenia
authors.initials: OE
authors.lastname: Popescu
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
authors.forename: Deborah
authors.initials: D
authors.lastname: Krakow
authors.forename: Millan S
authors.initials: MS
authors.lastname: Patel
mesh_terms: D005091:Exons / Q000235:genetics; D005333:Fetus / Q000473:pathology; D031845:Hajdu-Cheney Syndrome / Q000235:genetics* / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods; D051883:Receptor, Notch2 / Q000235:genetics*; D051880:Receptors, Notch / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: C497764:NOTCH2 protein, human; D051883:Receptor, Notch2; D051880:Receptors, Notch
keywords: Hadju-Cheney; NOTCH2; alagille syndrome; prenatal ultrasound; serpentine fibula polycystic kidney syndrome