Document Detail


Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
MedLine Citation:
PMID:  24995648     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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. © 2014 Wiley Periodicals, Inc.
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
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-7-3
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2014 Jul 
Date Detail:
Created Date:  2014-7-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2014 Wiley Periodicals, Inc.
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