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Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders
Author(s) -
Martin Brett M.,
Ivanova Margarita H.,
Sarukhanov Anna,
Kim Ashley,
Power Patricia,
Pugash Denise,
Popescu OanaEugenia,
Lachman Ralph S.,
Krakow Deborah,
Patel Millan S.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36656
Subject(s) - notch signaling pathway , alagille syndrome , biology , dysplasia , phenotype , craniofacial , fetus , kidney development , loss of heterozygosity , polycystic kidney disease , exon , endocrinology , medicine , kidney , genetics , cancer research , signal transduction , pregnancy , gene , embryonic stem cell , allele , cholestasis
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.