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)
|