Martin Brett M, Ivanova Margarita H, Sarukhanov Anna, Kim Ashley, Power Patricia, Pugash Denise, Popescu Oana-Eugenia, Lachman Ralph S, Krakow Deborah, Patel Millan S
UCLA School of Dentistry, Los Angeles, California.
Am J Med Genet A. 2014 Oct;164A(10):2490-5. doi: 10.1002/ajmg.a.36656. Epub 2014 Jul 3.
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.
蛇形腓骨多囊肾综合征（SFPKS；OMIM600330）是一种罕见的骨骼发育不良疾病，具有特征性表型，包括多囊肾、S形腓骨和异常的颅面特征。SFPKS与阿拉吉耶综合征（AGS；OMIM）和哈伊杜-切尼综合征（HCS；OMIM10250）有共同特征。这三种综合征均由编码NOTCH2的基因突变引起，NOTCH2是参与Notch信号传导的受体之一。Notch信号传导是一条主要的发育信号通路，也是众多细胞过程的关键调节因子。在本报告中，我们展示了一名23周胎儿的产前超声和产后检查结果，该胎儿患有严重的SFPKS表现，且NOTCH2基因第34外显子存在新生突变的杂合性。这些发现扩展了NOTCH2突变的表型谱，并展示了产前阶段的检查结果。
