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: Brett M Martin, Margarita H Ivanova, Anna Sarukhanov, Ashley Kim, Patricia Power, Denise Pugash, Oana-Eugenia Popescu, Ralph S Lachman, Deborah Krakow, Millan S Patel
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 10 Pg. 2490-5 (Oct 2014) ISSN: 1552-4833 [Electronic] United States
• PMID: 24995648 (Publication Type: Journal Article, Research Support, N.I.H., Extramural)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• NOTCH2 protein, human
• Receptor, Notch2
• Receptors, Notch

Topics

• Exons (genetics)
• Fetus (pathology)
• Hajdu-Cheney Syndrome (genetics, pathology)
• Heterozygote
• Humans
• Mutation (genetics)
• Prenatal Diagnosis (methods)
• Receptor, Notch2 (genetics)
• Receptors, Notch (genetics)
• Signal Transduction (genetics)