NPHP3突变与两名同胞新生儿期起病的多器官多囊性疾病相关。
NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.
作者信息
Leeman K T, Dobson L, Towne M, Dukhovny D, Joshi M, Stoler J, Agrawal P B
机构信息
1] Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA [2] Harvard Stem Cell Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
出版信息
J Perinatol. 2014 May;34(5):410-1. doi: 10.1038/jp.2014.20.
Two siblings with a severe multiorgan polycystic disease presenting in the neonatal period were identified. Their genetic testing identified compound heterozygous NPHP3 gene mutations, parents being heterozygous carriers. The mutations included a splice-site (c.958-2A>G) and a missense mutation (c.2342G>A; p.G781D), both being extremely rare. NPHP3 encodes for nephrocystin 3 present on the cilia-centrosome complex. We hypothesize that these mutations lead to defective cilia-based signaling, required for normal development of the renal, pancreatic, biliary and portal system. This report outlines a rare neonatal ciliopathy presentation of NPHP3 mutations leading to severe multiorgan failure in two siblings.
我们发现了两名在新生儿期出现严重多器官多囊性疾病的兄弟姐妹。他们的基因检测发现了复合杂合性NPHP3基因突变，其父母为杂合子携带者。这些突变包括一个剪接位点（c.958-2A>G）和一个错义突变（c.2342G>A；p.G781D），两者都极为罕见。NPHP3编码存在于纤毛-中心体复合体上的肾囊肿蛋白3。我们推测这些突变会导致基于纤毛的信号传导缺陷，而这是肾脏、胰腺、胆管和门脉系统正常发育所必需的。本报告概述了NPHP3突变导致两名兄弟姐妹出现严重多器官衰竭的罕见新生儿纤毛病表现。
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