Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
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蛇形腓骨多囊肾综合征的产前和产后发现以及 NOTCH2 谱系疾病的回顾。
DOI：
10.1002/ajmg.a.36656
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发表时间：
2014
期刊：
影响因子：
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通讯作者：
Patel,MillanS
中科院分区：
文献类型：
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作者：
Martin,BrettM;Ivanova,MargaritaH;Sarukhanov,Anna;Kim,Ashley;Power,Patricia;Pugash,Denise;Popescu,Oana-Eugenia;Lachman,RalphS;Krakow,Deborah;Patel,MillanS
蛇形腓骨多囊肾综合征是一种罕见的骨骼发育不良，具有特征性的表型，包括多囊肾、S状腓骨和异常的头面部特征。SFPKS与Alagille(AGS；OMIM)和Hajdu-Cheney(HCS；OMIM10250)综合征具有相同的特征。所有这三种综合征都是由编码NOTCH2的基因突变引起的，NOTCH2是参与Notch信号传递的受体之一。Noch信号是一条重要的发育信号通路，也是许多细胞过程的关键调节因子。在这篇报道中，我们报告了一例23周的胎儿的产前超声和出生后的发现，该胎儿有严重的SPKS表现和NOTCH2外显子34的从头突变的杂合性。这些发现扩大了NOTCH2突变的表型谱，并证明了在产前的发现。©2014 Wiley期刊，Inc.
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 encodesNOTCH2, 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 ofNOTCH2. These findings expand the phenotypic spectrum of NOTCH2 mutations and demonstrate the findings in the prenatal period. © 2014 Wiley Periodicals, Inc.