NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings

作者：Leeman K T^*; Dobson L; Towne M; Dukhovny D; Joshi M; Stoler J; Agrawal P B

来源：Journal of Perinatology, 2014, 34(5): 410-411.

DOI：10.1038/jp.2014.20

• polycystic kidney disease
• ciliopathy
• nephronophthisis
• NPHP3

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.

• 出版日期2014-5