Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
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DOI：
10.1038/ejhg.2011.125
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发表时间：
2012-01-01
影响因子：
5.2
通讯作者：
Robertson, Stephen P.
中科院分区：
文献类型：
--
作者：
Gray, Mary J.;Kim, Chong Ae;Robertson, Stephen P.
蛇形腓骨多囊肾综合征（SFPKS; MIM600330）是一种罕见的骨骼发育不良，多囊肾和畸形相是额外的显性表型成分。该疾病的分类学分类一直存在争议，因为该疾病与其他骨骼发育不良如Melnick Needles综合征（MNS; MIM309350）和Hajdu-Cheney综合征（HCS; MIM102500）具有共同的特征。在这里，两个以前报道的SFPKS的情况下，重点介绍了他们的表型进化。最近发现HCS是由NOTCH2突变引起的，对这两个病例的DNA进行了检查，发现两者在NOTCH2外显子34上都有截断突变。SFPKS的表型进化和这一分子分析强烈表明，SFPKS是HCS表型谱的一部分，不应再被归类为一个独特的疾病实体。欧洲人类遗传学杂志（2012）20,122 -124；doi: 10.1038 / ejhg.2011.125;2011年6月29日在线发布
Serpentine fibula polycystic kidney syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. The nosological classification of this disease has been debated as the condition shares features common to other skeletal dysplasias such as Melnick Needles syndrome (MNS; MIM309350) and Hajdu-Cheney Syndrome (HCS; MIM102500). Here, two previously reported cases of SFPKS are presented with emphasis on their phenotypic evolution. With the recent discovery that HCS is caused by mutations in NOTCH2, DNA from the both cases was examined and both were found to have truncating mutations in exon 34 of NOTCH2. The phenotypic evolution of SFPKS and this molecular analysis strongly suggest that SFPKS is part of the phenotypic spectrum of HCS and should no longer be classified as a distinct disease entity. European Journal of Human Genetics (2012) 20, 122-124; doi:10.1038/ejhg.2011.125; published online 29 June 2011