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

J Perinatol. 2014 May;34(5):410-1. doi: 10.1038/jp.2014.20.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cysts / genetics*
  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / genetics*
  • Kinesins / genetics*
  • Male
  • Mutation*

Substances

  • nephrocystin-3, human
  • Kinesins